Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.
Manner or style of walking.
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES.
Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.
A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.
Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia.

Persistence of tropical ataxic neuropathy in a Nigerian community. (1/54)

OBJECTIVES: The term tropical ataxic neuropathy (TAN) is currently used to describe several neurological syndromes attributed to toxiconutritional causes. However, TAN was initially proposed to describe a specific neurological syndrome seen predominantly among the Ijebu speaking Yorubas in south western Nigeria. In this study, the prevalence of TAN was determined in Ososa, a semiurban community in south western Nigeria described as endemic for TAN in 1969, and its neurological features were compared with Strachan's syndrome, prisoners of war neuropathy, the epidemic neuropathy in Cuba, and konzo. METHODS: A census of Ososa was followed by door to door screening of all subjects aged 10 years and above with a newly designed screening instrument. Subjects who screened positive had a neurological examination, and the diagnosis of TAN was made if any two or more of bilateral optic atrophy, bilateral neurosensory deafness, sensory gait ataxia, or distal symmetric sensory polyneuropathy were present. RESULTS: A total of 4583 inhabitants were registered in the census. Of these, 3428 subjects aged 10 years and above were screened. The diagnosis of TAN was made in 206 of 323 subjects who screened positive for TAN. The prevalence of TAN was 6. 0%, 3.9% in males and 7.7% in females. The highest age specific prevalence was 24% in the 60-69 years age group in women. CONCLUSION: The occurrence of TAN in Ososa continues at a higher prevalence than was reported 30 years ago. Its neurological features and natural history do not resemble those described for Strachan syndrome, epidemic neuropathy in Cuba, or konzo. The increasing consumption of cassava foods linked to its causation makes TAN of public health importance in Nigeria, the most populous African country.  (+info)

Turning difficulty characteristics of adults aged 65 years or older. (2/54)

BACKGROUND AND PURPOSE: Falls that occur while walking have been associated with an increased risk of hip fracture in elderly people. This study's purpose was to describe movement characteristics in older adults that serve as indicators of difficulty in turning while walking. SUBJECTS: Three groups were assessed: young adults who had no difficulty in turning (age range=20-30 years, n=20) (YNDT group), elderly adults who had no difficulty in turning (age range=65-87 years, n=15) (ENDT group), and elderly adults who had difficulty in turning (age range=69-92 years, n=15) (EDT group). METHODS: All subjects were videotaped performing a self-paced 180-degree turn during the Timed "Up & Go" Test. Movement characteristics of each group were identified. Four characteristics were used to identify difficulty in turning: (1) the type of turn, (2) the number of steps taken during the turn, (3) the time taken to accomplish the turn, (4) and staggering during the turn. RESULTS: In general, the EDT group took more steps during the turn and more time to accomplish the turn than the YNDT and ENDT groups. Although the only turning strategy used by the YNDT group was a pivot type of turn, there was an almost total absence of a pivot type of turn in the EDT group. No differences were found among the groups on the staggering item, yet the EDT group was the only group in which staggering was present. We believe these changes observed in the 4 characteristics only in the EDT group are indicators of difficulty in turning while walking. CONCLUSION AND DISCUSSION: These indicators of difficulty may be useful for the early identification of individuals aged 65 years or older who are having difficulty in turning and may well serve as the basis for the development of a scale for difficulty in turning in older adults. Preliminary findings indicate the need for further study into the reliability, validity, and sensitivity of measurements obtained with such a scale.  (+info)

Metastatic brainstem tumor manifesting as hearing disturbance--case report. (3/54)

A 53-year-old male, who had undergone a left upper lung lobectomy for cancer 2 years previously, presented with metastatic brainstem tumor manifesting as hearing disturbance. At first an otorhinolaryngologist treated him for senile sensorineural hearing disturbance. However, he suffered gait ataxia and was referred to our department. On admission, neurological examination found mild cerebellar ataxia on the left and gait unsteadiness. Neurootological analysis revealed central-type sensorineural hearing disturbance on the left both in the pure tone audiogram and speech discrimination test. Neuroimaging studies revealed a ring-like enhanced mass centered in the ventral left middle cerebellar peduncle, partly extending to the inferior cerebellar peduncle. Peritumoral edema extending to the ipsilateral cochlear nucleus was recognized. He underwent surgery via a left lateral suboccipital transcondylar approach. The histological diagnosis was adenocarcinoma identical with the primary lung cancer. Intra-axial brainstem metastatic lesion can be a cause of hearing disturbance, so should be included in the differential diagnosis for a patient complaining of hearing disturbance, especially with a past history of cancer.  (+info)

Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. (4/54)

Spinocerebellar ataxia (SCA) type 7 is an inherited neurodegenerative disorder caused by expansion of a polyglutamine tract within the ataxin-7 protein. To determine the molecular basis of polyglutamine neurotoxicity in this and other related disorders, we produced SCA7 transgenic mice that express ataxin-7 with 24 or 92 glutamines in all neurons of the CNS, except for Purkinje cells. Transgenic mice expressing ataxin-7 with 92 glutamines (92Q) developed a dramatic neurological phenotype presenting as a gait ataxia and culminating in premature death. Despite the absence of expression of polyglutamine-expanded ataxin-7 in Purkinje cells, we documented severe Purkinje cell degeneration in 92Q SCA7 transgenic mice. We also detected an N-terminal truncation fragment of ataxin-7 in transgenic mice and in SCA7 patient material with both anti-ataxin-7 and anti-polyglutamine specific antibodies. The appearance of truncated ataxin-7 in nuclear aggregates correlates with the onset of a disease phenotype in the SCA7 mice, suggesting that nuclear localization and proteolytic cleavage may be important features of SCA7 pathogenesis. The non-cell-autonomous nature of the Purkinje cell degeneration in our SCA7 mouse model indicates that polyglutamine-induced dysfunction in adjacent or connecting cell types contributes to the neurodegeneration.  (+info)

Typical features of cerebellar ataxic gait. (5/54)

BACKGROUND: Although gait disturbance is one of the most pronounced and disabling symptoms in cerebellar disease (CD), quantitative studies on this topic are rare. OBJECTIVES: To characterise the typical clinical features of cerebellar gait and to analyse ataxia quantitatively. METHODS: Twelve patients with various cerebellar disorders were compared with 12 age matched controls. Gait was analysed on a motor driven treadmill using a three dimensional system. A tandem gait paradigm was used to quantify gait ataxia. RESULTS: For normal locomotion, a significantly reduced step frequency with a prolonged stance and double limb support duration was found in patients with CD. All gait measurements were highly variable in CD. Most importantly, balance related gait variables such as step width and foot rotation angles were increased in CD, indicating the need for stability during locomotion. The tandem gait paradigm showed typical features of cerebellar ataxia such as dysmetria, hypometria, hypermetria, and inappropriate timing of foot placement. CONCLUSIONS: Typical features of gait in CD are reduced cadence with increased balance related variables and an almost normal range of motion (with increased variability) in the joints of the lower extremity. The tandem gait paradigm accentuates all the features of gait ataxia and is the most sensitive clinical test.  (+info)

A 47-year-old alcoholic man with progressive abnormal gait. (6/54)

Central pontine myelinolysis should be considered in the differential diagnosis of a patient with a history of alcoholism and malnutrition presenting with ataxia, regardless of serum sodium values. T2-weighted images are the most sensitive imaging technique, but changes may not be evident for weeks after the insult, and in addition, the insult may not be known. Supportive care is important to prevent complications, but no treatment has been found to be effective in treating the illness. Patient outcomes vary considerably and are difficult to predict.  (+info)

Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics. (7/54)

We previously have described a group of patients with gluten sensitivity presenting with ataxia (gluten ataxia) and suggested that this disease entity may account for a large number of patients with sporadic idiopathic ataxia. We have therefore investigated the prevalence of gluten sensitivity amongst a large cohort of patients with sporadic and familial ataxia and looked at possible genetic predisposition to gluten sensitivity amongst these groups. Two hundred and twenty-four patients with various causes of ataxia from North Trent (59 familial and/or positive testing for spinocerebellar ataxias 1, 2, 3, 6 and 7, and Friedreich's ataxia, 132 sporadic idiopathic and 33 clinically probable cerebellar variant of multiple system atrophy MSA-C) and 44 patients with sporadic idiopathic ataxia from The Institute of Neurology, London, were screened for the presence of antigliadin antibodies. A total of 1200 volunteers were screened as normal controls. The prevalence of antigliadin antibodies in the familial group was eight out of 59 (14%), 54 out of 132 (41%) in the sporadic idiopathic group, five out of 33 (15%) in the MSA-C group and 149 out of 1200 (12%) in the normal controls. The prevalence in the sporadic idiopathic group from London was 14 out of 44 (32%). The difference in prevalence between the idiopathic sporadic groups and the other groups was highly significant (P < 0.0001 and P < 0.003, respectively). The clinical characteristics of 68 patients with gluten ataxia were as follows: the mean age at onset of the ataxia was 48 years (range 14-81 years) with a mean duration of the ataxia of 9.7 years (range 1-40 years). Ocular signs were observed in 84% and dysarthria in 66%. Upper limb ataxia was evident in 75%, lower limb ataxia in 90% and gait ataxia in 100% of patients. Gastrointestinal symptoms were present in only 13%. MRI revealed atrophy of the cerebellum in 79% and white matter hyperintensities in 19%. Forty-five percent of patients had neurophysiological evidence of a sensorimotor axonal neuropathy. Gluten-sensitive enteropathy was found in 24%. HLA DQ2 was present in 72% of patients. Gluten ataxia is therefore the single most common cause of sporadic idiopathic ataxia. Antigliadin antibody testing is essential at first presentation of patients with sporadic ataxia.  (+info)

Relative contributions of balance and voluntary leg-coordination deficits to cerebellar gait ataxia. (8/54)

Different cerebellar regions participate in balance control and voluntary limb coordination, both of which might be important for normal bipedal walking. We wanted to determine the relative contributions of balance versus leg-coordination deficits to cerebellar gait ataxia in humans. We studied 20 subjects with cerebellar damage and 20 control subjects performing three tasks: a lateral weight-shifting task to measure balance, a visually guided stepping task to measure leg- coordination, and walking. We recorded three-dimensional joint position data during all tasks and center of pressure coordinates during weight-shifting. Each cerebellar subject was categorized as having no detectable deficits, a balance deficit only, a leg-placement deficit only, or both deficits. We then determined the walking abnormalities associated with each of these categories. Five of 10 measures of gait ataxia were abnormal in cerebellar subjects with a balance deficit, but only 1 was abnormal in cerebellar subjects with a leg-placement deficit. Furthermore, subjects with a balance deficit performed worse than subjects with a leg-placement deficit on 9 of the 10 gait measures. Finally, performance on the balance task, but not the leg-placement task, explained a significant proportion of the variance in walking speed for the entire cerebellar group. We conclude that balance deficits are more closely related to cerebellar gait ataxia than leg-placement deficits. Our findings are consistent with animal literature, which has suggested that cerebellar control of balance and gait are interrelated, and dissociable from cerebellar control of voluntary, visually guided limb movements.  (+info)

Gait ataxia is a type of ataxia, which refers to a lack of coordination or stability, specifically involving walking or gait. It is characterized by an unsteady, uncoordinated, and typically wide-based gait pattern. This occurs due to dysfunction in the cerebellum or its connecting pathways, responsible for maintaining balance and coordinating muscle movements.

In gait ataxia, individuals often have difficulty with controlling the rhythm and pace of their steps, tend to veer or stagger off course, and may display a reeling or stumbling motion while walking. They might also have trouble performing rapid alternating movements like quickly tapping their foot or heel. These symptoms are usually worse when the person is tired or attempting to walk in the dark.

Gait ataxia can be caused by various underlying conditions, including degenerative neurological disorders (e.g., cerebellar atrophy, multiple sclerosis), stroke, brain injury, infection (e.g., alcoholism, HIV), or exposure to certain toxins. Proper diagnosis and identification of the underlying cause are essential for effective treatment and management of gait ataxia.

Gait is a medical term used to describe the pattern of movement of the limbs during walking or running. It includes the manner or style of walking, including factors such as rhythm, speed, and step length. A person's gait can provide important clues about their physical health and neurological function, and abnormalities in gait may indicate the presence of underlying medical conditions, such as neuromuscular disorders, orthopedic problems, or injuries.

A typical human gait cycle involves two main phases: the stance phase, during which the foot is in contact with the ground, and the swing phase, during which the foot is lifted and moved forward in preparation for the next step. The gait cycle can be further broken down into several sub-phases, including heel strike, foot flat, midstance, heel off, and toe off.

Gait analysis is a specialized field of study that involves observing and measuring a person's gait pattern using various techniques, such as video recordings, force plates, and motion capture systems. This information can be used to diagnose and treat gait abnormalities, improve mobility and function, and prevent injuries.

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Spinocerebellar ataxias (SCAs) are a group of genetic disorders that affect the cerebellum, which is the part of the brain responsible for coordinating muscle movements. SCAs are characterized by progressive problems with balance, speech, and coordination. They are caused by mutations in various genes that result in the production of abnormal proteins that accumulate in neurons, leading to their degeneration.

There are over 40 different types of SCAs, each caused by a different genetic mutation. Some of the more common types include SCA1, SCA2, SCA3, SCA6, and SCA7. The symptoms and age of onset can vary widely depending on the type of SCA.

In addition to problems with coordination and balance, people with SCAs may also experience muscle weakness, stiffness, tremors, spasticity, and difficulty swallowing or speaking. Some types of SCAs can also cause visual disturbances, hearing loss, and cognitive impairment. Currently, there is no cure for SCAs, but treatments such as physical therapy, speech therapy, and medications can help manage the symptoms.

A gait disorder is a disturbance in the ability to walk that can't be attributed to physical disabilities such as weakness or paralysis. Neurologic gait disorders are those specifically caused by underlying neurological conditions. These disorders can result from damage to the brain, spinal cord, or peripheral nerves that disrupts communication between the muscles and the brain.

Neurologic gait disorders can present in various ways, including:

1. **Spastic Gait:** This is a stiff, foot-dragging walk caused by increased muscle tone (hypertonia) and stiffness (spasticity). It's often seen in conditions like cerebral palsy or multiple sclerosis.

2. **Ataxic Gait:** This is a broad-based, unsteady, and irregular walk caused by damage to the cerebellum, which affects balance and coordination. Conditions such as cerebellar atrophy or stroke can cause this type of gait disorder.

3. **Parkinsonian Gait:** This is a shuffling walk with small steps, flexed knees, and difficulty turning. It's often seen in Parkinson's disease.

4. **Neuropathic Gait:** This is a high-stepping walk caused by foot drop (difficulty lifting the front part of the foot), which results from damage to the peripheral nerves. Conditions such as diabetic neuropathy or Guillain-Barre syndrome can cause this type of gait disorder.

5. **Choreic Gait:** This is an irregular, dance-like walk caused by involuntary movements (chorea) seen in conditions like Huntington's disease.

6. **Mixed Gait:** Sometimes, a person may exhibit elements of more than one type of gait disorder.

The specific type of gait disorder can provide important clues about the underlying neurological condition and help guide diagnosis and treatment.

A tremor is an involuntary, rhythmic muscle contraction and relaxation that causes a shaking movement. It's a type of motion disorder that can affect any part of your body, but it most often occurs in your hands. Tremors can be harmless, but they can also be a symptom of a more serious neurological disorder. The cause of tremors isn't always known, but they can be the result of damage to the brain from a stroke, multiple sclerosis, or trauma. Certain medications, alcohol abuse, and drug withdrawal can also cause tremors. In some cases, tremors may be inherited and run in families.

Tremors can be classified based on their cause, appearance, and the situation in which they occur. The two most common types of tremors are:

* Resting tremors, which occur when your muscles are relaxed, such as when your hands are resting on your lap. Parkinson's disease is a common cause of this type of tremor.
* Action tremors, which occur with purposeful movement, such as when you're trying to hold something or when you're using a utensil. Essential tremor, the most common type of tremor, is an action tremor.

Tremors can also be classified based on their frequency (how often they occur) and amplitude (the size of the movement). High-frequency tremors are faster and smaller in amplitude, while low-frequency tremors are slower and larger in amplitude.

In general, tremors are not a life-threatening condition, but they can be embarrassing or make it difficult to perform daily activities. In some cases, tremors may indicate a more serious underlying condition that requires treatment. If you're concerned about tremors or have any questions about your symptoms, it's important to speak with a healthcare provider for an accurate diagnosis and appropriate treatment.

Friedreich Ataxia is a genetic disorder that affects the nervous system and causes issues with movement. It is characterized by progressive damage to the nerves (neurons) in the spinal cord and peripheral nerves, which can lead to problems with muscle coordination, gait, speech, and hearing. The condition is also associated with heart disorders, diabetes, and vision impairment.

Friedreich Ataxia is caused by a mutation in the FXN gene, which provides instructions for making a protein called frataxin. This protein plays a role in the production of energy within cells, particularly in the mitochondria. The mutation in the FXN gene leads to reduced levels of frataxin, which can cause nerve damage and other symptoms associated with Friedreich Ataxia.

The condition typically begins in childhood or early adulthood and progresses over time, often leading to significant disability. There is currently no cure for Friedreich Ataxia, but treatments are available to help manage the symptoms and improve quality of life.

Fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene, which provides instructions for making a protein called fragile X mental retardation protein (FMRP). This protein is essential for normal brain development.

In people with Fragile X syndrome, the FMR1 gene is missing a critical piece of DNA, leading to little or no production of FMRP. As a result, the brain's nerve cells cannot develop and function normally, which can cause a range of developmental problems, including learning disabilities, cognitive impairment, and behavioral and emotional difficulties.

Fragile X syndrome is the most common form of inherited intellectual disability, affecting about 1 in 4,000 males and 1 in 8,000 females. The symptoms and severity can vary widely, but most people with Fragile X syndrome have some degree of intellectual disability, ranging from mild to severe. They may also have physical features associated with the condition, such as a long face, large ears, flexible joints, and flat feet.

There is no cure for Fragile X syndrome, but early intervention and treatment can help improve outcomes. Treatment typically involves a combination of educational support, behavioral therapy, speech and language therapy, physical therapy, and medication to manage symptoms such as anxiety, hyperactivity, and aggression.

The cerebellum is a part of the brain that lies behind the brainstem and is involved in the regulation of motor movements, balance, and coordination. It contains two hemispheres and a central portion called the vermis. The cerebellum receives input from sensory systems and other areas of the brain and spinal cord and sends output to motor areas of the brain. Damage to the cerebellum can result in problems with movement, balance, and coordination.

Fragile X Mental Retardation Protein (FMRP) is a protein encoded by the FMR1 gene in humans. It is an RNA-binding protein that plays a critical role in regulating the translation and stability of mRNAs, particularly those involved in synaptic plasticity and neuronal development.

Mutations in the FMR1 gene, leading to the absence or reduction of FMRP, have been associated with Fragile X syndrome (FXS), which is the most common inherited form of intellectual disability and the leading genetic cause of autism spectrum disorder (ASD). In FXS, the lack of FMRP leads to an overproduction of proteins at synapses, resulting in altered neuronal connectivity and dysfunctional synaptic plasticity.

FMRP is widely expressed in various tissues, but it has a particularly high expression level in the brain, where it regulates the translation of mRNAs involved in learning, memory, and other cognitive functions. FMRP also interacts with several other proteins involved in neuronal development and function, such as ion channels, receptors, and signaling molecules.

Overall, Fragile X Mental Retardation Protein is a crucial regulator of synaptic plasticity and neuronal development, and its dysfunction has been linked to various neurodevelopmental disorders, including Fragile X syndrome, autism spectrum disorder, and intellectual disability.

Ataxia telangiectasia is a rare, inherited genetic disorder that affects the nervous system, immune system, and overall development. The condition is characterized by progressive difficulty with coordination and balance (ataxia), as well as the development of small, dilated blood vessels (telangiectasias) on the skin and eyes.

The underlying cause of ataxia telangiectasia is a mutation in the ATM gene, which provides instructions for making a protein that plays a critical role in DNA repair and maintaining genetic stability. When this gene is mutated, cells are unable to properly repair damaged DNA, leading to an increased risk of cancer and other health problems.

Individuals with ataxia telangiectasia typically begin to show symptoms during early childhood, with progressive difficulties in coordination and balance, slurred speech, and recurrent respiratory infections due to weakened immune function. Over time, these symptoms can worsen, leading to significant disability and reduced life expectancy.

There is currently no cure for ataxia telangiectasia, and treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, speech therapy, and medications to help control infections and other health problems.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Ataxia telangiectasia mutated (ATM) proteins are a type of protein that play a crucial role in the maintenance and repair of DNA in cells. The ATM gene produces these proteins, which are involved in several important cellular processes such as:

1. DNA damage response: When DNA is damaged, ATM proteins help to detect and respond to the damage by activating various signaling pathways that lead to DNA repair or apoptosis (programmed cell death) if the damage is too severe.
2. Cell cycle regulation: ATM proteins regulate the cell cycle by controlling checkpoints that ensure proper DNA replication and division. This helps prevent the propagation of cells with damaged DNA.
3. Telomere maintenance: ATM proteins help maintain telomeres, which are the protective caps at the ends of chromosomes. Telomeres shorten as cells divide, and when they become too short, cells can no longer divide and enter a state of senescence or die.

Mutations in the ATM gene can lead to Ataxia-telangiectasia (A-T), a rare inherited disorder characterized by neurological problems, immune system dysfunction, increased risk of cancer, and sensitivity to ionizing radiation. People with A-T have defective ATM proteins that cannot properly respond to DNA damage, leading to genomic instability and increased susceptibility to disease.

Gait apraxia is a neurological disorder that affects an individual's ability to perform coordinated and complex movements required for walking, despite having the physical capability to do so. It is not caused by weakness or sensory loss, but rather by damage to the brain areas responsible for motor planning and execution, particularly in the frontal lobes.

Gait apraxia is characterized by a wide-based, hesitant, and unsteady gait pattern. Individuals with this condition may have difficulty initiating walking, changing direction, or adjusting their stride length and speed. They may also exhibit symptoms such as freezing of gait, where they are unable to move their feet forward despite intending to walk.

This disorder is often associated with various neurological conditions, including cerebrovascular accidents (strokes), degenerative diseases such as Parkinson's disease and multiple sclerosis, traumatic brain injuries, and infections of the central nervous system. Treatment typically involves physical therapy, gait training, and the use of assistive devices to improve mobility and safety.

Weaknesses show as gait ataxia (lack of co-ordination). Affected people also suffer optic atrophy and sensory neural deafness, ... Half of these adolescents are seen to have spinal ataxia. The other affects middle-aged and elderly people. They suffer sensory ...
Ataxia may occur and cause increasingly severe gait disturbances. Among the signs and symptoms of adenylosuccinate lyase ...
... can be limited to one side of the body, which is referred to as hemiataxia. Friedreich's ataxia has gait abnormality as ... It accounts for 40% of ataxias of unknown origin and 15% of all ataxias. Less than 10% of people with gluten ataxia present any ... Dystaxia is a mild degree of ataxia. The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum ... Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and ...
... ataxia (lack of coordination), balance disorder, gait disturbance (trouble with walking); increased blood pressure; drooling, ... ataxia, balance disorder, gait disturbance, increased blood pressure, drooling, excessive salivation, fever, upper respiratory ...
Clinical signs include gait abnormalities including ataxia, knuckling, and crossing over. Muscle atrophy, usually unilateral, ... Anemia, anorexia, ataxia, and abortions are the chief clinical signs. Myositis with flaccid paralysis has been reported as a ...
Fasano A, Herzog J, Raethjen J, Rose F, Muthuraman M, Volkmann J, Falk D, Elble R, Deuschl G (Dec 2010). "Gait ataxia in ... Some people may have unsteadiness and problems with gait and balance. ET-related tremors do not occur during sleep, but people ... Possible adverse events include gait difficulties, balance disturbances, paresthesias, headache, skin burns with ulcerations, ...
... (or sensory ataxia gait) is a form of gait abnormality. It indicates involvement of posterior column. Posterior ... ". "sensory ataxic gait - General Practice Notebook". www.gpnotebook.co.uk. Duncan, Malcolm (27 May 2019). "Sensory ataxia ... Uncoordinated walking Friedreich's ataxia Pernicious anemia Tabes dorsalis Peripheral neuropathy Spinal cord disease Multiple ... v t e (All stub articles, Medical sign stubs, Gait abnormalities). ...
Ataxia- The impairment of gait, which is the second most common symptom. Pyramidal signs- Various signs that indicate a ...
Some people may experience frequent falls and gait unsteadiness due to ataxia. This ataxia may be caused by cerebellar ... Physical therapy is beneficial for strength training of weakened muscles, as well as for gait and balance training. To best ... degeneration, sensory ataxia, or distal muscle weakness. Over time, alcoholic polyneuropathy may also cause difficulty ...
Hindlimb ataxia affects the animal's gait and occurs when muscle control is lost. This results in poor balance and coordination ... Some cattle have been observed to have an abnormal gait, changes in behavior, tremors and hyper-responsiveness to certain ... "Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page: National Institute of Neurological Disorders and ...
"Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series". Cerebellum & Ataxias. 3 (1): 8. ... spastic ataxia. Disorder subdivisions: Friedreich's ataxia, spinocerebellar ataxia, ataxia telangiectasia, vasomotor ataxia, ... Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), ... Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait ...
Dab1-scm mutants have a widespread gait obvious to the naked eye (ataxia). In their home-cage, they often reel and fall, ... Dab1-scm mutants were distinguished from non-ataxic controls as early as postnatal day 8 based on body tremor, gait anomalies, ... Purkinje cell and granule cell degeneration results in ataxia. Despite normal Reln mRNA levels, Dab1-scm mutants have defective ...
... and gait ataxia. Intention tremors are common among individuals with multiple sclerosis (MS). One common symptom of MS is ... "Fragile X-Associated Tremor/Ataxia Syndrome-An Older Face of the Fragile X Gene." 2007. In Nature Clinical Practice Neurology. ... This causes a reduction in cerebellar ataxia. Another neurotransmitter targeted by drugs that has been found to alleviate ... gait problems (abnormality in walking), and postural tremor or titubation (to-and-fro movements of the neck and trunk). A ...
Neurological symptoms may include, among others, dysarthria, truncal, limb and gait ataxia and nystagmus. Symptoms often ... Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 3: Anti-Yo/CDR2, ... Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma ... Therefore, newly developing cerebellar ataxia should always prompt proper diagnostic measures to exclude PCD. Tumor removal is ...
Neurologists sometimes ask patients to walk in a straight line using tandem gait as a test to help diagnose ataxia, especially ... Tandem gait is a gait (method of walking) with very small steps in a straight line so that, with each step, the heel of the ... inability to walk correctly in tandem gait does not prove the presence of ataxia.[citation needed] Profoundly affected tandem ... truncal ataxia, because sufferers of these disorders will have an unsteady gait. Walking in tandem magnifies the unsteadiness. ...
Truncal ataxia results in postural instability; gait instability is manifested as a disorderly, wide-based gait with ... Another classic finding of alcohol intoxication is ataxia, in its appendicular, gait, and truncal forms. Appendicular ataxia ... Ataxia causes the observation that drunk people are clumsy, sway back and forth, and often fall down. It is presumed to be due ... Mitoma H, Manto M, Shaikh AG (August 2021). "Mechanisms of Ethanol-Induced Cerebellar Ataxia: Underpinnings of Neuronal Death ...
Postural sway and gait ataxia can be reduced by augmenting sensory information for balance control. Recent research has shown ... as little as 100 grams of light touch of a fingertip can provide enough sensory reference to reduce sway and ataxia during gait ... Gait abnormality Spinal cord injury Upper motor neuron Martini, Frederic (2010). Anatomy & Physiology. Benjamin Cummings. ISBN ... Generally damage to the vestibulospinal system results in ataxia and postural instability. For example, if unilateral damage ...
Wilson J (7 March 2017). "Ataxia (Wobbly Gait) in Cats - Causes, Symptoms & Treatment - Cat World - Cat Health, Cat Care & Cat ... These include (but are not limited to): Ataxia: vestibular or sensory feline infectious peritonitis (FIP) lysosomal storage ...
... and ataxia of stance and gait. Dyschronometria can result from autosomal dominant cerebellar ataxia (ADCA). Common signs of ... Other ataxias may also have symptoms that affect gait, speech, thought process, spatial awareness, and time orientation used in ... dysarthria as well as ataxias effecting stance and gait. Dyslexia can be another problem in those individuals affected by ... "Cerebellar ataxia". BBC News. 2004-11-30. Retrieved 2007-07-29. Tobe, E.H. (2012). "Behavioral Effects of Incomplete Temporal ...
People with gluten ataxia usually present gait abnormality or incoordination and tremor of the upper limbs. Gaze-evoked ... Gluten ataxia accounts for 40% of ataxias of unknown origin and 15% of all ataxias. Less than 10% of people with gluten ataxia ... Gluten ataxia is an autoimmune disease triggered by the ingestion of gluten. With gluten ataxia, damage takes place in the ... The effectiveness of the treatment depends on the elapsed time from the onset of the ataxia until diagnosis, because the death ...
People with gluten ataxia usually present gait abnormality or incoordination and tremor of the upper limbs. Gaze-evoked ... Gluten ataxia accounts for 40% of ataxias of unknown origin and 15% of all ataxias. Less than 10% of people with gluten ataxia ... Gluten ataxia is an autoimmune disease triggered by the ingestion of gluten. With gluten ataxia, damage takes place in the ... The effectiveness of the treatment depends on the elapsed time from the onset of the ataxia until diagnosis, because the death ...
... and those with cerebral palsy often have scissoring gait.[citation needed] Ataxia Foot drop Gait Abnormality Rating Scale Limp ... Gait abnormality is a deviation from normal walking (gait). Watching a patient walk is an important part of the neurological ... myopathic gait and antalgic gait.[citation needed] Patients who have peripheral neuropathy also experience numbness and ... Gait abnormality is also common in persons with nervous system problems such as cauda equina syndrome, multiple sclerosis, ...
Specifically, a prolonged vitamin E deficiency can lead to the development of limiting ataxia and gait disturbances. Some ... Hentati F, El-Euch G, Bouhlal Y, Amouri R (2012). "Ataxia with vitamin E deficiency and abetalipoproteinemia". Ataxic Disorders ... Approximately 30%-79% of people with the disease display symptoms of abnormality of the retinal pigmentation, ataxia, muscular ... They can include poor muscle coordination, difficulty with balance and movement (ataxia), and progressive degeneration of the ...
... , or frontal ataxia, is a gait apraxia found in patients with bilateral frontal lobe disorders. It is ... Unlike ataxias of cerebellar origin, Bruns apraxia exhibits many frontal lobe ataxia characteristics, with some or all present ... Bruns apraxia can be distinguished from Parkinsonian ataxia and cerebellar ataxia in a number of ways. Patients typically ... ISBN 978-1-85070-333-4. Bruns' ataxia at Who Named It? Frontal lobe ataxia; Thompson, PD. Handbook Clinical Neurology. 2012;103 ...
Other commonly observed motor signs include gait abnormalities and ataxia, which typically affect the hind legs first. Affected ... Ataxia was observed to last for about 8 weeks in the affected animals. The ultimate result is death of the infected animals. ... cats may also display poor judgement of distance, and some cats may develop a rapid, crouching, hypermetric gait. Another ...
March 2017). "A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias ... The symptoms are broad, but consistently involve gait and limb ataxia, dysarthria and loss of lower limb reflexes. There is ... The Friedreich's Ataxia Global Patient Registry is the only worldwide registry of Friedreich's ataxia patients to characterize ... "Friedreich Ataxia Fact Sheet". Archived from the original on 23 January 2019. Retrieved 10 February 2019. "Friedreich ataxia ...
Oculomotor ataxia accompanies gait ataxia which causes dysarthria, muscle weakness, loss of joint position sense and limb ... ataxias with metabolic disorders ataxias with a DNA repair defect degenerative ataxias ataxia associated with other features. ... Ataxia with telangiectasia is a rare form ataxia that causes chromosomal instability, sensitivity to ionizing radiation, ... Arreflexia is more common in autosomal recessive ataxia than autosomal dominant ataxias. Also, they tend to have more ...
The woman consumed over 600 coins, and started to show neurological symptoms such as unsteady gait and mild ataxia. Menkes ... Patients typically present difficulty walking (gait difficulty) caused by sensory ataxia (irregular muscle coordination) due to ... Ataxic gait demonstration. Online Medical Video Bolamperti, L.; Leone, M. A.; Stecco, A.; Reggiani, M.; Pirisi, M.; Carriero, A ... and ataxia. The neurodegenerative syndrome of copper deficiency has been recognized for some time in ruminant animals, in which ...
Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria and ataxia of stance and gait. ... Autosomal recessive cerebellar ataxia Sensory ataxia Spinocerebellar ataxia Vestibulocerebellar syndrome "Cerebellar ataxia". ... Gluten ataxia accounts for 40% of all sporadic idiopathic ataxias and 15% of all ataxias. Primary auto-immune ataxias (PACA) ... Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical ...
... gait ataxia and neuronal loss in the hippocampus and cerebellum in mice that are heterozygous for Pur-alpha". Neuroscience. 337 ...
Search Gait Ataxia Late Onset Polyneuropathy on Amazon. *Search Gait Ataxia Late Onset Polyneuropathy on Google ... Search Gait Ataxia Late Onset Polyneuropathy on Amazon. *Search Gait Ataxia Late Onset Polyneuropathy on Google ...
What do you need to know about alcoholism and ataxia? Finding out can help you avoid addiction. Call 866.540.0182 to learn ... Seen an Alcoholic Gait? Its Brain Damage-Alcoholic Cerebellar Ataxia. April 8, 2023 / By Promises Behavioral Health / ... However, many people in addiction recovery will keep their alcoholic gait.. Find Alcoholism and Ataxia Treatment with Promises ... What Is Cerebellar Ataxia?. Cerebellar ataxia is a symptom, not a distinct disorder. The cerebellum plays an essential role in ...
Ataxia (drunken/wobbly gait). *. Loss of coordination and dizziness. *. Tremors or seizures ...
... gait refers to how a person walks. An abnormal gait might be caused by an underlying physical condition, disease or injury. ... ClinicalTrials.gov: Gait Apraxia (National Institutes of Health) * ClinicalTrials.gov: Gait Ataxia (National Institutes of ... The pattern of how you walk is called your gait. Many different diseases and conditions can affect your gait and lead to ... Gait or Walking Problems (National Multiple Sclerosis Society) - PDF * Hallux Rigidus (American College of Foot and Ankle ...
Gait ataxia (GA). GA is a wide-based stance with steps of irregular length and direction. ... Nirenberg MJ, Libien J, Vonsattel JP, Fahn S. Multiple system atrophy in a patient with the spinocerebellar ataxia 3 gene ... MSA with cerebellar features (MSA-C) - Cerebellar ataxia predominates; it is sometimes termed sporadic olivopontocerebellar ... of patients with isolated late-onset cerebellar ataxia and 8-10% of patients with parkinsonism will develop MSA. Therefore, a ...
Ataxia/gait disorder. 17 (10.4). 3 (6.7). 10 (12.4). 4 (10.8). 0.632. ...
Weaknesses show as gait ataxia (lack of co-ordination). Affected people also suffer optic atrophy and sensory neural deafness, ... Half of these adolescents are seen to have spinal ataxia. The other affects middle-aged and elderly people. They suffer sensory ...
Other more severe symptoms of FHM may include coma, fever, and meningismus; progressive ataxia, nystagmus, gait unsteadiness, ... episodic ataxia type 2, and spinocerebellar ataxia type 6. ...
Coordination Difficulties: Monitor for ataxia, abnormal gait, and incoordination. Advise patients to not drive or operate ... A total of 0.4% of patients in controlled trials discontinued KEPPRA treatment due to ataxia, compared to 0% of placebo-treated ... A total of 3.4% of adult KEPPRA-treated patients experienced coordination difficulties, (reported as either ataxia, abnormal ... while one of the KEPPRA-treated patients was hospitalized due to worsening of pre-existing ataxia. These events occurred most ...
Uncoordinated gait (ataxia). *Muscle rigidity/tetany. *An abnormal posture where the back is arched and head is thrown ...
Gait ataxia HP:0002066. *Involuntary movements HP:0004305. *Limb ataxia HP:0002070 ...
Coordination Difficulties: Monitor for ataxia, abnormal gait, and incoordination. Advise patients to not drive or operate ... reported as either ataxia, abnormal gait, or incoordination) compared to 1.6% of placebo-treated patients. A total of 0.4% of ... while one of the levetiracetam-treated patients was hospitalized due to worsening of pre-existing ataxia. These events occurred ... patients in controlled clinical studies discontinued levetiracetam treatment due to ataxia, compared to 0% of placebo-treated ...
Although generally an uncomplicated cerebellar ataxia with gait imbalance, dysarthria, and nystagmus, there i … ... Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. Mantuano ... The recessive ataxias are not named systemat … This review broadly covers the commoner genetic ataxias, concentrating on their ... Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by ...
These mice did not exhibit obvious ataxia or gait abnormalities during normal behavior. Gpr56−/− mice also performed equally as ... 1990) Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings. Neuropediatrics 21:218-221. ... In light of the cellular and anatomical defects in Gpr56−/− mice and the prevalence of ataxia in BFPP patients, we examined ... Although ataxia is consistently observed in BFPP patients, little is known about the characteristics of their cerebellar ...
Central and Peripheral Nervous System: paresthesia, somnolence, paresis, urinary incontinence, ataxia, dysphasia, convulsions ... local, gait abnormal, confusion. Endocrine: adrenal hypercorticism. Gastrointestinal System: abdominal pain, anorexia ...
Comparative analysis of gait in Parkinsons disease, cerebellar ataxia and subcortical arteriosclerotic encephalopathy. Brain ... Reliability and clinical correlates of 3D-accelerometry based gait analysis outcomes according to age and fall-risk. Gait ... Association of gait and balance disorders with age-related white matter changes: the LADIS study. Neurology 2008; 70: 935-942 ... Gait changes in older adults: predictors of falls or indicators of fear. J Am Geriatr Soc 1997; 45: 313-320 ...
Signs of parkinsonism (eg, gait ataxia, cogwheel rigidity) may suggest DLB. Lack of cooperation or presence of behavioral ... Vitamin B1 (thiamine) deficiency may lead to Wernickes encephalopathy, characterized by altered mental status, ataxia, and ... ataxia (in which the feet appear "glued to the floor"), and urinary incontinence.10 Executive function is often impaired, and ... ataxia).12 The patient may regain certain aspects of cognitive function during recovery, but rates of cognitive decline tend to ...
He showed some unsteadiness of gait, however, no motor weakness or ataxia was noted. Deep tendon reflexes were diminished, but ... He showed some unsteadiness of gait, however, no motor weakness or ataxia was noted. Deep tendon reflexes were diminished, but ... and dysequilibrium in which he showed difficulty in tandem gait; however, no cerebellar ataxia was noted. A cranial CT scan ... and dysequilibrium in which he showed difficulty in tandem gait; however, no cerebellar ataxia was noted. A cranial CT scan ...
Unsteady gait, clumsiness, walking problems (ataxia). Symptoms of Type D are similar to Type C. ...
... of auto-antibodies that target synaptic machinery proteins was documented recently in immune-mediated cerebellar ataxias. The ... Patients often present with gait ataxia and a variable degree of limb ataxia and scanning speech [19,20,21,22]. MRI shows ... Clinical Profiles of Anti-GAD Ataxia. Anti-GAD ataxia is defined as sporadic cerebellar ataxia associated with high titers of ... infection or vaccination precedes acute gait ataxia, associated with a variable degree of limb ataxia. Anti-GluR delta is ...
Initial presentation was fatigue and inability to walk due to ataxia and disrupted gait. Physical examination revealed right ...
Common signs were ataxia, weakness, asymmetric gait, muscle tremors, hypersensitivity, cranial nerve deficits, and recumbency. ...
" "cerebellar ataxia" "gait disturbance" "MMR vaccine" "mumps meningitis" "vaccine. approval"",. A search for "gait disturbance ...
At the 6-month follow-up, clinical improvement of gait instability, trunk ataxia, and myoclonus was observed; brain MRI scan ... A 59-year old man with a past history of diabetes was admitted to the authors department due to progressive gait difficulties ... Neurological examination revealed a moderate cognitive decline, with mild extrapyramidal symptoms, ataxia, and myoclonus. Brain ... The list includes AD, PD, Friedreichs ataxia, Huntington disease, and pantothenate kinase-associated neurodegeneration. ...
... abnormal gait, hypoesthesia, ataxia. Rare: abnormal coordination, hyperesthesia, ptosis, stupor. ...
On examination, she had left upper limb incoordination, mild upper limb weakness, and gait ataxia. MR imaging demonstrated an ... During the next week, she developed right-leaning ataxia, and in weeks 2 and 3, she developed right-sided lower limb spasticity ...
... and gait changes such as ataxia. ... can manifest with CNS symptoms such as gait changes, altered ... ataxia, and progressive mental impairment, eventually leading to the Korsakoff syndrome. Improvement is only possible if the ...
Gait abnormalities can be broadly categorized as ataxia, weakness, lameness, or abnormal movements. ... Ataxia Ataxia is an inability to perform normal, coordinated motor activity that is not due to weakness, musculoskeletal ... A nonslip surface, such as carpet, grass, or pavement, should be used to assess gait. The patients gait should be observed ... Cerebellar ataxia is due to cerebellar disease and is characterized by errors in the rate and range of movement, especially ...
  • The cause of the alcoholic gait is cerebellar ataxia, a type of brain damage. (promises.com)
  • However, long-term alcoholics frequently develop cerebellar ataxia. (promises.com)
  • Some ataxias develop for non-hereditary reasons and not due to other medical conditions, like alcoholic cerebellar ataxia. (promises.com)
  • What Is Cerebellar Ataxia? (promises.com)
  • Cerebellar ataxia is a symptom, not a distinct disorder. (promises.com)
  • Alcoholism is not the only potential cause of cerebellar ataxia. (promises.com)
  • If you've experienced traumatic head injuries that produce bleeding in the brain, you may also be at risk of developing cerebellar ataxia. (promises.com)
  • Can an Alcoholic Recover from Cerebellar Ataxia? (promises.com)
  • Several medical studies have examined whether cerebellar ataxia improves when alcoholics stop drinking. (promises.com)
  • SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progression and normal lifespan. (nih.gov)
  • however, no cerebellar ataxia was noted. (unboundmedicine.com)
  • The presence of auto-antibodies that target synaptic machinery proteins was documented recently in immune-mediated cerebellar ataxias. (springer.com)
  • GAD65 is involved in the synthesis, packaging, and release of GABA, whereas the other three play important roles in the induction of long-term depression (LTD). Thus, the auto-antibodies toward these synaptic molecules likely impair fundamental synaptic machineries involved in unique functions of the cerebellum, potentially leading to the development of cerebellar ataxias (CAs). (springer.com)
  • Autoimmunity affects the cerebellum, leading to the manifestations of the cerebellar ataxias (CAs), termed immune-mediated cerebellar ataxia (IMCAs). (springer.com)
  • Given progressive truncal ataxia, patient was admitted for suspected cerebellar stroke. (acponline.org)
  • Subacute onset of ataxia is usually seen in paraneoplastic cerebellar degeneration. (bcm.edu)
  • Goines has cerebellar ataxia, which results in an unsteady gait and slurred speech. (whsv.com)
  • Our objective was to assess the effect of the handkerchief guide on gait in patients with cerebellar ataxia. (go.jp)
  • Methods: Gait analysis was carried out on seven patients with degenerative cerebellar disease (DCD), seven patients with unilateral cerebellar vascular disease (CVD), and seven healthy control (HC) subjects. (go.jp)
  • Results: The HGW attenuated body-sway, lengthened step, and increased gait velocity in patients with cerebellar ataxia. (go.jp)
  • Conclusions: The HGW stabilized upright posture in patients with cerebellar ataxia during level-ground walking, probably by enabling subconscious postural adjustments to minimize changes in the arm and hand position relative to trunk, and in arm configuration. (go.jp)
  • The handkerchief guide may be useful for walk training in patients with cerebellar ataxia. (go.jp)
  • Late-onset cerebellar ataxia (LOCA) is a group of neurodegenerative disorders that manifest with a progressive cerebellar syndrome after the age of 30 years and are often sporadic (i.e., negative family history). (movementdisorders.org)
  • Such expansions undoubtedly cause cerebellar ataxia-neuropathy-vestibular areflexia syndrome (CANVAS) and other types of LOCA, often accompanied by neuropathy and/or bilateral vestibulopathy. (movementdisorders.org)
  • The core phenotype of SCA27B (GAA-FGF14 ataxia) consists of a slowly progressive cerebellar syndrome characterized by gait ataxia and cerebellar oculomotor impairment. (movementdisorders.org)
  • An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. (jax.org)
  • Coordination Difficulties: Monitor for ataxia, abnormal gait, and incoordination. (drugs.com)
  • Hereditary or genetic ataxias occur because of gene mutations that lead to abnormal proteins making neurons function abnormally. (bcm.edu)
  • Symptoms in cattle include nervousness, kicking, heightened sensory perception and abnormal gait (high stepping and pelvic limb ataxia). (who.int)
  • The HCs and patients with DCD held the handkerchief with their right hand, while the patients with unilateral limb ataxia due to CVD grasped it with their affected and unaffected hands in different trials. (go.jp)
  • There are about 150,000 patients affected by some form of ataxia in the United States. (bcm.edu)
  • For RFC1-linked CANVAS, pedigree studies had previously localized the causal variant to a small region of the genome, while for FGF14 there was strong prior evidence since small sequence variants in FGF14 were already known to cause a form of ataxia. (movementdisorders.org)
  • Autosomal dominant ataxias include the spinocerebellar ataxias and episodic ataxias. (bcm.edu)
  • Spinocerebellar ataxias (SCA) represent the most common form of chronic progressive ataxia in adults. (bcm.edu)
  • Ataxia may cause involuntary eye movements (nystagmus), incoordination of hands, difficulty with fine motor tasks (such as eating or writing), slurring of speech, and an unsteady walk. (bcm.edu)
  • He showed some unsteadiness of gait, however, no motor weakness or ataxia was noted. (unboundmedicine.com)
  • An 88 year old male with dementia, dyslipidemia, and status-post cochlear implantation presented to a community hospital after new onset gait instability. (acponline.org)
  • While most patients present with gait unsteadiness at disease onset, almost half of patients report episodic symptoms such as vertigo and/or dizziness, visual disturbances (diplopia, oscillopsia, blurring), and dysarthria. (movementdisorders.org)
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. (nih.gov)
  • There are many causes of ataxia but most can be categorized as sporadic (no specific cause), genetic (also referred to as hereditary or running in families) or secondary to a medical illness, certain drugs, or an injury to the brain. (bcm.edu)
  • Impairments in mobility accompanying gait disturbances and falls are important causes of morbidity and mortality in the elderly. (thieme-connect.com)
  • Until now, however, there has been a lack of a clear framework for diagnosis and classification of gait disturbances in cerebral microangipathy. (thieme-connect.com)
  • The present review throws light on clinical presentations, makes a suggestion for classification, and describes relevant diagnostic and possible therapeutic strategies for gait disturbances and falls in elderly patients with cerebral microangiopathy. (thieme-connect.com)
  • Patients with the late infantile form of MLD are usually 4 years old or younger and typically present initially with gait disturbances, loss of motor developmental milestones, optic atrophy, and diminished deep tendon reflexes. (medscape.com)
  • Proprioceptive sensory loss can cause sensory ataxia and a steppage gait. (cmt.org.uk)
  • A neurologist can usually differentiate between the two types of ataxia: motor and sensory. (bcm.edu)
  • Damage or degeneration in the back part of the brain called the cerebellum results in ataxia. (bcm.edu)
  • This is a condition in which cancer in the breast, lungs, ovaries, or other areas in the body produces antibodies that affect the cerebellum and cause ataxia. (bcm.edu)
  • Ataxia can occur suddenly (acute), over weeks (subacute), or slowly progressive over months to years (chronic). (bcm.edu)
  • Classic A-T presents with ataxia and ocular telangiectasia in association with immunodeficiency, increased risk for malignancy, increased serum α-fetoprotein levels, radiosensitivity, and chromosomal instability. (bmj.com)
  • Growing ataxia, wobbliness and instability of gait with rear legs scissoring, and the toes knuckling over within six months. (eddieswheels.com)
  • Wernicke-Korsakoff syndrome (WKS) can manifest with CNS symptoms such as gait changes, altered mental status, and ocular abnormalities. (nih.gov)
  • Congenital ataxias occur in children, and they are most commonly due to structural abnormalities in the brain that occur before or during birth. (bcm.edu)
  • H. americanum infection (HAI) is manifested mainly by gait abnormalities and musculoskeletal pain due to myositis and periosteal bone lesions. (vin.com)
  • Introduction Ataxia telangiectasia (A-T) is a multisystem, degenerative disorder caused by mutation of the A-T mutated ( ATM ) gene. (bmj.com)
  • Ataxia is a loss of coordination, making it impossible to control various body movements. (promises.com)
  • Ataxia describes a condition characterized by poor coordination of movements. (bcm.edu)
  • Mutations in GPR56 , an orphan G-protein-coupled receptor (GPCR), cause bilateral frontoparietal polymicrogyria (BFPP), a disorder characterized by mental retardation, seizures, motor developmental delay, and ataxia. (jneurosci.org)
  • If the disease progresses enough, these symptoms resemble the stereotypical alcoholic gait. (promises.com)
  • Some of these studies show that abstinent alcoholics may experience minor improvements in their ataxia-related symptoms within 10 weeks of getting sober. (promises.com)
  • Even with the benefit of long-term abstinence, some recovering alcoholics experience limited improvements in their ataxia-related symptoms. (promises.com)
  • Although his cranial CT scan revealed leukoaraiosis, his dementia and gait disturbance was only mild until his fall on March, 1995. (unboundmedicine.com)
  • In children, bacterial or viral infections can cause acute ataxia and this usually improves with time. (bcm.edu)
  • CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. (mpg.de)
  • A very promising theory for explaining the frequently progressive motor disturbance refers to the complex motor network that ensures the intactness of central coordination of stance and gait. (thieme-connect.com)
  • Case Description The eldest sister is 24-years-old and became wheelchair bound by age 22, following 20 years of progressive gait ataxia. (bmj.com)
  • 14 -3-3 proteins and spinocerebellar ataxia type 1: from molecular interaction to human neuropathology. (nih.gov)
  • If you or someone you love wants to overcome alcoholism and possibly lose their alcoholic gait, call 844.875.5609 to speak with someone from Promises Behavioral Health. Ask about our alcohol detox centers , alcohol addiction treatment programs, and residential alcohol rehab options throughout the United States. (promises.com)
  • More than half of patients with SCA27B display sensitivity to alcohol, which may trigger episodes of ataxia or dramatically worsen baseline ataxia. (movementdisorders.org)
  • Female alcoholics commonly sustain more ataxia-related brain damage than male alcoholics. (promises.com)
  • Following tick removal, truncal ataxia dramatically improved. (acponline.org)
  • In the past decade, white matter lesions in the sense of cerebral microangiopathy have been identified as an important factor in gait disturbance and falls. (thieme-connect.com)
  • Gait in elderly with cerebral small vessel disease. (thieme-connect.com)
  • 1 Baezner H, Hennerici M. From trepidant abasia to motor network failure - gait disorders as a consequence of subcortical vascular encephalopathy (SVE): review of historical and contemporary concepts. (thieme-connect.com)
  • The purpose of this clinical vignette is to broaden our differential diagnosis for ataxia and explore a rare presentation of paralysis. (acponline.org)
  • The diagnosis of ataxia is made after a careful, detailed clinical examination by a neurologist. (bcm.edu)
  • Anybody can develop ataxia-related problems affecting everyday speech, hand-eye coordination, or the ability to perform delicate hand motions. (promises.com)
  • Mobile Phone-Based Measures of Activity, Step Count, and Gait Speed: Results From a Study of Older Ambulatory Adults in a Naturalistic Setting. (umassmed.edu)
  • Many different diseases and conditions can affect your gait and lead to problems with walking. (medlineplus.gov)
  • Ataxias are a highly heterogeneous group of diseases, both clinically and genetically. (movementdisorders.org)
  • Reliability and clinical correlates of 3D-accelerometry based gait analysis outcomes according to age and fall-risk. (thieme-connect.com)
  • If not destroyed, the animal develops a swaying gait, itching, anorexia and weight loss and behavioural problems. (who.int)
  • While it remains to be seen how these new insights can be translated into better treatments for patients, it is exciting to see the new developments in the genetics of ataxia. (movementdisorders.org)
  • Human walking and higher-level gait disorders, particularly in the elderly. (thieme-connect.com)
  • Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia , followed by SCA2 and SCA6. (nih.gov)
  • Spinocerebellar ataxia type 14 . (nih.gov)
  • Weaknesses show as gait ataxia (lack of co-ordination). (wikipedia.org)
  • Assessment of gait in subcortical vascular encephalopathy by computerized analysis: a cross-sectional and longitudinal study. (thieme-connect.com)
  • People struggling with ataxia have nerve damage affecting some of the central nervous system (CNS). (promises.com)
  • A longitudinal study of gait and balance dysfunction in normal older people. (thieme-connect.com)