Myoclonic Cerebellar Dyssynergia
Age of Onset
Multiple System Atrophy
Magnetic Resonance Imaging
Ocular Motility Disorders
Ataxia Telangiectasia Mutated Proteins
Trinucleotide Repeat Expansion
Paraneoplastic Cerebellar Degeneration
Chromosomes, Human, Pair 19
Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. (1/449)Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar degeneration caused by the expansion of a CAG trinucleotide repeat in the CACNA1A gene. Mutations in patients are characterised by expanded alleles of between 21 and 30 repeat units and by extreme gonadal stability when transmitted from parents to children. We have investigated the SCA6 mutation in a large Spanish kindred in which previously reported spinocerebellar SCA genes and loci had been excluded. We observed a 23 CAG repeat expanded allele in the 13 clinically affected subjects and in three out of 10 presymptomatic at risk subjects. Transmission of the mutant allele was stable in six parent to child pairs and in 29 meioses through the pedigree. Linkage analysis with the SCA6-CAG polymorphism and marker D19S221 confirmed the location of SCA6 on chromosome 19p13. The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat. (+info)
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. (2/449)A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported. (+info)
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (3/449)X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the XLSA/A gene. This gene, ABC7, is an ortholog of the yeast ATM1 gene whose product localizes to the mitochondrial inner membrane and is involved in iron homeostasis. The full-length ABC7 cDNA was cloned and the entire coding region screened for mutations in a kindred in which five male members manifested XLSA/A. An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. The mutation was shown to segregate with the disease in the family and was not detected in at least 600 chromosomes of general population controls. Introduction of the corresponding mutation into the Saccharomyces cerevisiae ATM1 gene resulted in a partial loss of function of the yeast Atm1 protein. In addition, the human wild-type ABC7 protein was able to complement ATM1 deletion in yeast. These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome. (+info)
Acute cerebellar ataxia with human parvovirus B19 infection. (4/449)A 2 year old boy developed acute cerebellar ataxia in association with erythema infectiosum. During the disease, genomic DNA and antibodies against human parvovirus B19 were detected in serum but not in cerebrospinal fluid. Parvovirus B19 associated acute cerebellar ataxia might occur due to transient vascular reaction in the cerebellum during infection. (+info)
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. (5/449)The SCA7 mutation has been found in 54 patients and 7 at-risk subjects from 17 families who have autosomal dominant cerebellar ataxia (ADCA) II with progressive pigmentary maculopathy. In one isolated case, haplotype reconstruction through three generations confirmed a de novo mutation owing to paternal meiotic instability. Different disease-associated haplotypes segregated among the SCA7-positive kindreds, which indicated a multiple origin of the mutation. One family with the clinical phenotype of ADCA type II did not have the CAG expansion that indicated locus heterogeneity. The distribution of the repeat size in 944 independent normal chromosomes from controls, unaffected at-risk subjects, and one affected individual fell into two ranges. The majority of the alleles were in the first range of 7-19 CAG repeats. A second range could be identified with 28-35 repeats, and we provide evidence that these repeats represent intermediate alleles that are prone to further expansion. The repeat size of the pathological allele, the widest reported for all CAG-repeat disorders, ranged from 37 to approximately 220. The repeat size showed significant negative correlation with both age at onset and age at death. Analysis of the clinical features in the patients with SCA7 confirmed that the most frequently associated features are pigmentary maculopathy, pyramidal tract involvement, and slow saccades. The subjects with <49 repeats tended to have a less complicated neurological phenotype and a longer disease duration, whereas the converse applied to subjects with >/=49 repeats. The degree of instability during meiotic transmission was greater than in all other CAG-repeat disorders and was particularly striking in paternal transmission, in which a median increase in repeat size of 6 and an interquartile range of 12 were observed, versus a median increase of 3 and interquartile range of 3.5 in maternal transmission. (+info)
Decreased cerebellar blood flow in postinfectious acute cerebellar ataxia. (6/449)OBJECTIVE: The aim of the present study was to evaluate the regional cerebral blood flow (rCBF) in patients with postinfectious acute cerebellar ataxia using single photon emission computed tomography (SPECT). METHODS: Five children with postinfectious acute cerebellar ataxia and five control subjects were examined. The distribution of rCBF was measured by SPECT imaging after intravenous administration of 123I-IMP (111 MBq). The rCBF ratio-defined as the ratio of rCBF in the region of interest (ROI) to that in the occipital cortex-was calculated for each cortical and subcortical ROI. The mean rCBF ratio of each region was then compared between the ataxic and control subjects. These patients and all control subjects were also evaluated using MRI. RESULTS: The rCBF ratio was significantly lower in the cerebellum of the ataxic patients than in the cerebellum of the control subjects (p<0.05). No abnormal cerebellar morphology and no abnormal signal intensities were found on MRI. CONCLUSION: 123I-IMP SPECT clearly demonstrated the decreased rCBF in the cerebellum of all patients with postinfectious acute cerebellar ataxia. (+info)
Trinucleotide repeat expansion of spinocerebellar ataxia (SCA1) found in a Chinese family. (7/449)OBJECTIVE: To investigate the gene mutation and the ratio of the spinocerebellar ataxia type 1 (SCA1) in Chinese patients with autosomal dominant spinocerebellar ataxia (ADSCA). METHOD: The family material and DNA samples were collected from thirteen families with ADSCA. To determine the characteristics of the CAG trinucleotide repeats in SCA1 gene, the PCR products of the Rep1 and Rep2 primers were analyzed, and the bands with CAG repeat expansion were cloned by PCR2. 1 vector and sequenced. RESULTS: One family was found to have an expanded CAG repeat in the 13 families with ADSCA. The clinically affected individual was heterozygous with one disease allele being 55 CAG repeats, whereas the mean size of the CAG repeats on 104 chromosomes generated from unrelated control Chinese individuals is 29.3 (ranging from 18 to 34). CONCLUSIONS: The frequency of the SCA1 mutation is about 7% in the 13 Chinese families with ADSCA, suggesting that this type of genetic defect is not the main cause involved in the pathogenesis of ADSCA in China. Since the mutation has also been found in Caucasian, Japanese, Malaysian, and Bangladeshi kindreds, it is suggested that this genetic defect may well have multiple origins in different ethnic groups. (+info)
Comparative analysis of gait in Parkinson's disease, cerebellar ataxia and subcortical arteriosclerotic encephalopathy. (8/449)Quantitative gait analysis has been used to elucidate characteristic features of neurological gait disturbances. Although a number of studies compared single patient groups with controls, there are only a few studies comparing gait parameters between patients with different neurological disorders affecting gait. In the present study, gait parameters were compared between control subjects, patients with parkinsonian gait due to idiopathic Parkinson's disease, subjects suffering from cerebellar ataxia and patients with gait disturbance due to subcortical arteriosclerotic encephalopathy. In addition to recording of baseline parameters during preferred walking velocity, subjects were required to vary velocity from very slow to very fast. Values of velocity and stride length from each subject were then used for linear regression analysis. Whereas all patient groups showed slower walking velocity and reduced step length compared with healthy controls when assessed during preferred walking, patients with ataxia and subcortical arteriosclerotic encephalopathy had, in addition, increased variability of amplitude and timing of steps. Regression analysis showed that with changing velocity, subjects with Parkinson's disease changed their stride length in the same proportion as that measured in controls. In contrast, patients with ataxia and subcortical arteriosclerotic encephalopathy had a disproportionate contribution of stride length when velocity was increased. Whereas the findings in patients with Parkinson's disease can be explained as a reduction of force gain, the observations for patients with ataxia and subcortical arteriosclerotic encephalopathy reflect an altered spatiotemporal gait strategy in order to compensate for instability. The similarity of gait disturbance in subcortical arteriosclerotic encephalopathy and cerebellar ataxia suggests common mechanisms. (+info)
* Genetic mutations or deletions
* Infections such as meningitis or encephalitis
* Stroke or bleeding in the brain
* Traumatic head injury
* Multiple sclerosis or other demyelinating diseases
* Brain tumors
* Cerebellar degeneration due to aging
* Coordination difficulties, such as stumbling or poor balance
* Tremors or shaky movements
* Slurred speech and difficulty with fine motor skills
* Nystagmus (involuntary eye movements)
* Difficulty with gait and walking
* Fatigue, weakness, and muscle wasting
* Physical examination and medical history
* Neurological examination to test coordination, balance, and reflexes
* Imaging studies such as MRI or CT scans to rule out other conditions
* Genetic testing to identify inherited forms of cerebellar ataxia
* Electromyography (EMG) to test muscle activity and nerve function
* Physical therapy to improve balance, coordination, and gait
* Occupational therapy to help with daily activities and fine motor skills
* Speech therapy to address slurred speech and communication difficulties
* Medications to manage symptoms such as tremors or spasticity
* Assistive devices such as canes or walkers to improve mobility
* The prognosis for cerebellar ataxia varies depending on the underlying cause. In some cases, the condition may be slowly progressive and lead to significant disability over time. In other cases, the condition may remain stable or even improve with treatment.
Living with cerebellar ataxia can be challenging, but there are many resources available to help individuals with the condition manage their symptoms and maintain their quality of life. These resources may include:
* Physical therapy to improve balance and coordination
* Occupational therapy to assist with daily activities
* Speech therapy to address communication difficulties
* Assistive devices such as canes or walkers to improve mobility
* Medications to manage symptoms such as tremors or spasticity
* Support groups for individuals with cerebellar ataxia and their families
Overall, the key to managing cerebellar ataxia is early diagnosis and aggressive treatment. With proper management, individuals with this condition can lead active and fulfilling lives despite the challenges they face.
There are several types of ataxia, each with different symptoms and causes. Some common forms of ataxia include:
1. Spinocerebellar ataxia (SCA): This is the most common form of ataxia and is caused by a degeneration of the cerebellum and spinal cord. It can cause progressive weakness, loss of coordination, and difficulty with speaking and swallowing.
2. Friedreich's ataxia: This is the second most common form of ataxia and is caused by a deficiency of vitamin E in the body. It can cause weakness in the legs, difficulty walking, and problems with speech and language.
3. Ataxia-telangiectasia (AT): This is a rare form of ataxia that is caused by a gene mutation. It can cause progressive weakness, loss of coordination, and an increased risk of developing cancer.
4. Acute cerebellar ataxia: This is a sudden and temporary form of ataxia that can be caused by a variety of factors such as infections, injuries, or certain medications.
5. Drug-induced ataxia: Certain medications can cause ataxia as a side effect.
6. Vitamin deficiency ataxia: Deficiencies in vitamins such as vitamin B12 or folate can cause ataxia.
7. Metabolic disorders: Certain metabolic disorders such as hypothyroidism, hyperthyroidism, and hypoglycemia can cause ataxia.
8. Stroke or brain injury: Ataxia can be a result of a stroke or brain injury.
9. Multiple system atrophy (MSA): This is a rare progressive neurodegenerative disorder that can cause ataxia, parkinsonism, and autonomic dysfunction.
10. Spinocerebellar ataxia (SCA): This is a group of rare genetic disorders that can cause progressive cerebellar ataxia, muscle wasting, and other signs and symptoms.
It's important to note that this is not an exhaustive list and there may be other causes of ataxia not mentioned here. If you suspect you or someone you know may have ataxia, it is important to consult a healthcare professional for proper diagnosis and treatment.
There are multiple types of SCA, each caused by an expansion of a specific DNA repeat sequence in the genome. This expansion leads to a loss of function in the protein produced by that gene, which is involved in various cellular processes that are essential for the proper functioning of the nervous system.
The symptoms of SCA typically begin in adulthood and can vary in severity and progression depending on the specific type of disorder. They may include:
1. Coordination problems and balance difficulties, leading to a wide, unsteady gait.
2. Slurred speech and difficulty with swallowing.
3. Difficulty with fine motor movements, such as writing or using utensils.
4. Loss of vision, including blindness in some cases.
5. Cognitive decline and dementia.
6. Seizures and other neurological problems.
There is currently no cure for SCA, and treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and medication to control seizures or other neurological problems. In some cases, surgery may be necessary to relieve pressure on the brain or spinal cord.
Genetic testing can help diagnose SCA by detecting the expansion of the specific DNA repeat sequence that causes the disorder. This information can also be used to inform family members about their risk of inheriting the condition.
In summary, spinocerebellar ataxias are a group of inherited disorders that affect the brain and spinal cord, leading to progressive degeneration of the nervous system and a range of symptoms including coordination problems, slurred speech, and loss of vision. While there is currently no cure for SCA, treatment can help manage symptoms and improve quality of life. Genetic testing can help diagnose the condition and inform family members about their risk of inheriting it.
There are several types of spinocerebellar degenerations, including:
1. Spinocerebellar ataxia (SCA): This is the most common type of spinocerebellar degeneration, and it is caused by a mutation in one of several genes that code for proteins involved in the function of the cerebellum and spinal cord.
2. Spinocerebellar neurodegeneration with axonal degeneration (SCN1A): This type of spinocerebellar degeneration is caused by a mutation in the SCN1A gene, which codes for a protein that regulates the flow of sodium ions in and out of nerve cells.
3. Spinocerebellar neurodegeneration with Purkinje cell loss (SCN2): This type of spinocerebellar degeneration is caused by a mutation in the SCN2 gene, which codes for a protein that plays a role in the regulation of the cytoskeleton in nerve cells.
4. Spinocerebellar neurodegeneration with optic atrophy (SCN3): This type of spinocerebellar degeneration is caused by a mutation in the SCN3 gene, which codes for a protein that plays a role in the regulation of the cytoskeleton in nerve cells.
The symptoms of spinocerebellar degenerations can vary depending on the specific type of disorder and the age at which they appear. In general, these disorders are characterized by:
1. Progressive loss of motor function: Patients with spinocerebellar degenerations may experience weakness, tremors, and difficulty with coordination and balance.
2. Cognitive decline: Spinocerebellar degenerations can also cause cognitive decline, including memory loss, confusion, and difficulty with language processing.
3. Seizures: Some patients with spinocerebellar degenerations may experience seizures.
4. Vision loss: Spinocerebellar degenerations can cause progressive vision loss, including blindness.
5. Sleep disturbances: Patients with spinocerebellar degenerations may experience sleep disturbances, including insomnia and restlessness.
6. Emotional changes: Spinocerebellar degenerations can also cause emotional changes, such as depression, anxiety, and mood swings.
The diagnosis of spinocerebellar degeneration is based on a combination of clinical examination, imaging studies, and genetic testing. Imaging studies, such as magnetic resonance imaging (MRI) and positron emission tomography (PET), can help to identify the specific type of disorder and the extent of brain damage. Genetic testing can help to confirm the diagnosis by identifying a mutation in one of the genes associated with spinocerebellar degeneration.
There is currently no cure for spinocerebellar degenerations, but there are several treatments available that can help to manage the symptoms and slow the progression of the disease. These include:
1. Physical therapy: Physical therapy can help to improve motor function and balance.
2. Occupational therapy: Occupational therapy can help patients to adapt to their condition and maintain independence.
3. Speech therapy: Speech therapy can help to improve communication and swallowing difficulties.
4. Medications: Various medications, such as anticonvulsants, muscle relaxants, and pain relievers, can be used to manage seizures, muscle spasms, and pain.
5. Deep brain stimulation: Deep brain stimulation is a surgical procedure that involves implanting an electrode in the brain to deliver electrical impulses to specific areas of the brain. This can help to improve motor function and reduce symptoms.
6. Stem cell therapy: Stem cell therapy is a promising area of research for the treatment of spinocerebellar degenerations. Stem cells have the ability to differentiate into different types of cells, including neurons, and may help to replace damaged cells in the brain.
7. Gene therapy: Gene therapy involves using genes to treat or prevent diseases. This can involve replacing a faulty gene with a healthy one or silencing a faulty gene. Gene therapy is still in its infancy for spinocerebellar degenerations, but it is an area of active research.
8. Physical activity: Regular physical activity has been shown to improve motor function and overall health in patients with spinocerebellar degenerations.
9. Cognitive rehabilitation: Cognitive rehabilitation can help to improve cognitive function and independence in daily activities.
10. Supportive care: Supportive care, such as physical therapy, occupational therapy, and speech therapy, can help to improve quality of life and manage symptoms.
It's important to note that the most effective treatment plan for spinocerebellar degenerations will depend on the specific type of disease, the severity of symptoms, and the individual needs of each patient. It is best to work with a healthcare provider to develop a personalized treatment plan.
The main symptoms of gait ataxia include:
* Lack of coordination
* Wobbling or staggering while walking
* Increased risk of falling
* Difficulty with balance and equilibrium
* Slow and deliberate movements
Gait ataxia can be assessed using various clinical tests such as the Clinical Test of Sensory Integration and Balance, the Berg Balance Scale, and the Timed Up and Go test. Treatment options for gait ataxia depend on the underlying cause of the condition and may include physical therapy, occupational therapy, speech therapy, medications, and in some cases, surgery.
In summary, gait ataxia is a term used to describe an abnormal gait pattern due to dysfunction in the nervous system. It can be caused by various factors and can affect individuals of all ages. The symptoms include unsteadiness, lack of coordination, and increased risk of falling, among others. Treatment options depend on the underlying cause of the condition and may include physical therapy, medications, and in some cases, surgery.
The hallmark symptoms of AT are:
1. Ataxia: difficulty with coordination, balance, and gait.
2. Telangiectasias: small, red blood vessels visible on the skin, particularly on the face, neck, and arms.
3. Ocular telangiectasias: small, red blood vessels visible in the eyes.
4. Cognitive decline: difficulty with memory, learning, and concentration.
5. Seizures: episodes of abnormal electrical activity in the brain.
6. Increased risk of cancer: particularly lymphoma, myeloid leukemia, and breast cancer.
The exact cause of AT is not yet fully understood, but it is thought to be due to mutations in the ATM gene, which is involved in DNA damage response and repair. There is currently no cure for AT, but various treatments are available to manage its symptoms and prevent complications. These may include:
1. Physical therapy: to improve coordination and balance.
2. Occupational therapy: to assist with daily activities and fine motor skills.
3. Speech therapy: to improve communication and swallowing difficulties.
4. Medications: to control seizures, tremors, and other symptoms.
5. Cancer screening: regular monitoring for the development of cancer.
AT is a rare disorder, and it is estimated that only about 1 in 40,000 to 1 in 100,000 individuals are affected worldwide. It is important for healthcare providers to be aware of AT and its symptoms, as early diagnosis and intervention can improve outcomes for patients with this condition.
The main clinical features of olivopontocerebellar atrophies include:
1. Progressive cerebellar ataxia: a loss of coordination, balance, and gait difficulties.
2. Cognitive decline: problems with memory, language, and other cognitive functions.
3. Eye movements abnormalities: difficulty with eye movements, including nystagmus (involuntary eye movements) and oculomotor disorders.
4. Dysarthria: slurred or distorted speech.
5. Pyramidal signs: symptoms such as rigidity, bradykinesia (slowness of movement), and tremors.
The most common form of olivopontocerebellar atrophy is sporadic cerebellar ataxia, which accounts for about 70% of cases. Other forms include familial cerebellar ataxia, which is inherited in an autosomal dominant or recessive pattern, and acquired cerebellar ataxia, which can be caused by various medical conditions such as stroke, tumors, or infections.
There is currently no cure for olivopontocerebellar atrophy, and treatment is primarily focused on managing the symptoms and slowing down disease progression. Physical therapy, occupational therapy, and speech therapy can help improve motor function, balance, and communication skills. Medications such as antioxidants, cholinesterase inhibitors, and dopaminergic agents may also be used to manage symptoms.
In summary, olivopontocerebellar atrophy is a group of progressive neurodegenerative disorders that affect the cerebellum and brainstem, leading to difficulties with movement, coordination, and balance. While there is currently no cure for these conditions, a range of treatments can help manage symptoms and improve quality of life.
The exact cause of SPS is not known, but it is believed to be an autoimmune disorder that results in the immune system attacking healthy brain cells, leading to inflammation and damage to the nervous system. Treatment options are limited, and current therapies focus on managing symptoms and improving quality of life.
The definition of Stiff-Person Syndrome (SPS) in the medical field includes:
1. A rare and progressive neurological disorder characterized by muscle stiffness, rigidity, and spasms.
2. Associated with heightened sensitivity to external stimuli such as noise, touch, or emotional stress.
3. Cognitive impairment, anxiety, and depression are common features.
4. Believed to be an autoimmune disorder, causing inflammation and damage to the nervous system.
5. Limited treatment options, with a focus on managing symptoms and improving quality of life.
The symptoms of MCD typically begin in early childhood and can vary in severity from person to person. In addition to the myoclonic movements, individuals with MCD may experience difficulty walking, tremors, and a wide range of other motor abnormalities. Cognitive function is usually unaffected, but speech and language skills may be impaired.
The exact cause of MCD is not yet fully understood, although it is thought to be related to abnormalities in the cerebellum and other parts of the brain. Genetic factors are also suspected to play a role, as the disorder can run in families. There is currently no cure for MCD, but various treatments such as physical therapy, occupational therapy, and medications may be helpful in managing the symptoms.
In summary, Myoclonic Cerebellar Dyssynergia (MCD) is a rare neurological disorder that affects the cerebellum and causes involuntary movements of the limbs, as well as difficulties with coordination, balance, and speech. It typically begins in early childhood and can vary in severity from person to person. While there is currently no cure for MCD, various treatments may be helpful in managing the symptoms.
Some common types of cerebellar diseases include:
1. Cerebellar atrophy: This is a condition where the cerebellum shrinks or degenerates, leading to symptoms such as tremors, muscle weakness, and difficulty with movement.
2. Cerebellar degeneration: This is a condition where the cerebellum deteriorates over time, leading to symptoms such as loss of coordination, balance problems, and difficulties with speech and language.
3. Cerebellar tumors: These are abnormal growths that develop in the cerebellum, which can cause a variety of symptoms depending on their size and location.
4. Cerebellar stroke: This is a condition where blood flow to the cerebellum is interrupted, leading to damage to the brain tissue and symptoms such as weakness or paralysis of certain muscle groups.
5. Cerebellar vasculature disorders: These are conditions that affect the blood vessels in the cerebellum, leading to symptoms such as transient ischemic attacks (TIAs) or strokes.
6. Inflammatory diseases: These are conditions that cause inflammation in the cerebellum, leading to symptoms such as tremors, ataxia, and weakness.
7. Infections: Bacterial, viral, or fungal infections can affect the cerebellum and cause a range of symptoms.
8. Trauma: Head injuries or other forms of trauma can damage the cerebellum and lead to symptoms such as loss of coordination, balance problems, and memory loss.
9. Genetic disorders: Certain genetic mutations can affect the development and function of the cerebellum, leading to a range of symptoms.
10. Degenerative diseases: Conditions such as multiple sclerosis, Parkinson's disease, and Huntington's disease can cause degeneration of the cerebellum and lead to symptoms such as tremors, ataxia, and weakness.
It's important to note that this is not an exhaustive list, and there may be other causes of cerebellar symptoms not included here. A healthcare professional can help determine the underlying cause of your symptoms based on a thorough medical history and examination.
Examples of abnormal reflexes include:
1. Overactive reflexes: Reflexes that are too strong or exaggerated, such as an oversensitive knee jerk reflex.
2. Underactive reflexes: Reflexes that are too weak or diminished, such as a decreased tendon reflex in the arm.
3. Delayed reflexes: Reflexes that take longer than expected to occur, such as a delayed deep tendon reflex.
4. Abnormal reflex arc: A reflex arc that is not normal or expected for the situation, such as a spastic reflex arc.
5. Reflexes that are out of proportion to the stimulus: Such as an excessive or exaggerated reflex response to a mild stimulus.
6. Reflexes that occur in the absence of a stimulus: Such as a spontaneous reflex.
7. Reflexes that do not resolve: Such as a persistent reflex.
8. Reflexes that are painful or uncomfortable: Such as an abnormal rectal reflex.
It's important to note that not all abnormal reflexes are necessarily indicative of a serious medical condition, but they should be evaluated by a healthcare professional to determine the underlying cause and appropriate treatment.
There are several types of apraxias, each with distinct symptoms and characteristics:
1. Ideomotor apraxia: Difficulty performing specific movements or gestures, such as grasping and manipulating objects, due to a lack of understanding of the intended purpose or meaning of the action.
2. Ideational apraxia: Inability to initiate or perform movements due to a lack of understanding of the task or goal.
3. Kinesthetic apraxia: Difficulty judging the weight, shape, size, and position of objects in space, leading to difficulties with grasping, manipulating, or coordinating movements.
4. Graphomotor apraxia: Difficulty writing or drawing due to a lack of coordination between the hand and the intended movement.
5. Dressing apraxia: Difficulty dressing oneself due to a lack of coordination and planning for the movements required to put on clothes.
6. Gait apraxia: Difficulty walking or maintaining balance due to a lack of coordinated movement of the legs, trunk, and arms.
7. Speech apraxia: Difficulty articulating words or sounds due to a lack of coordination between the mouth, tongue, and lips.
The diagnosis of apraxias typically involves a comprehensive neurological examination, including assessments of motor function, language, and cognitive abilities. Treatment options vary depending on the underlying cause and severity of the apraxia, but may include physical therapy, speech therapy, occupational therapy, and medication.
The symptoms of MJD typically begin in adulthood and progress slowly over time. They may include:
* Ataxia (loss of coordination and balance)
* Dysmetria (increased muscle tone)
* Dystonia (muscle spasms and twitches)
* Myoclonus (involuntary muscle jerks)
* Cognitive decline
* Eye movements abnormalities
* Slurred speech
MJD is usually diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. There is currently no cure for MJD, but various therapies can help manage its symptoms. These may include physical therapy, occupational therapy, speech therapy, and medications to control seizures or muscle spasms.
MJD is a rare disease, and its prevalence is not well established. However, it is estimated to affect approximately 1 in 100,000 individuals of Portuguese or Brazilian descent. The disease is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.
While there is currently no cure for MJD, research into its genetic and pathophysiological mechanisms is ongoing. Scientists are working to develop new treatments and therapies to slow or stop the progression of the disease, and to improve the quality of life for affected individuals and their families.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
Pathological nystagmus can be diagnosed through a comprehensive eye examination, including a visual acuity test, refraction test, cover test, and eyer movements assessment. Imaging studies such as CT or MRI scans may also be ordered to rule out other possible causes of the symptoms.
Treatment for pathological nystagmus depends on the underlying cause of the condition. In some cases, treatment may involve correcting refractive errors or addressing any underlying brain disorders through medication, physical therapy, or surgery. Other treatments may include eye exercises, prisms, or specialized glasses to help improve eye movement and reduce the symptoms of nystagmus.
In summary, pathological nystagmus is an abnormal and involuntary movement of the eyeballs that can be caused by various neurological disorders. Diagnosis is through a comprehensive eye examination and imaging studies, and treatment depends on the underlying cause of the condition.
Types of foot deformities include:
1. Bunions: A bony growth on the side of the big toe that can cause pain and discomfort.
2. Hammertoes: A deformed toe caused by a muscle imbalance, which can lead to pain and corns.
3. Clubfoot: A condition in which the foot is turned inward or outward at birth.
4. Flat feet: A condition in which the arch of the foot collapses, causing the sole to be flat.
5. High arches: An abnormal curvature of the foot that can cause pain and stiffness.
6. Plantar fasciitis: Inflammation of the tissue on the bottom of the foot, which can cause heel pain.
7. Achilles tendinitis: Inflammation of the tendon that connects the calf muscle to the heel bone.
8. Bursitis: Inflammation of the fluid-filled sac (bursa) that cushions the joints, causing pain and swelling.
9. Tailor's bunion: A bony growth on the fifth toe that can cause pain and corns.
10. Sesamoiditis: Inflammation of the small bones called sesamoids, which are located under the first metatarsal bone.
Symptoms of foot deformities can include:
* Pain or discomfort in the foot or ankle
* Difficulty walking or standing
* Swelling or redness
* Limited mobility or stiffness
* Corns or calluses
* Inflammation or warmth in the affected area
Causes of foot deformities can include:
* Injury or trauma
* Disease or infection
* Poorly fitting shoes or footwear
* Muscle imbalance or weakness
* Nerve damage or neurological conditions
Treatment options for foot deformities can include:
* Rest and ice to reduce pain and inflammation
* Physical therapy exercises to strengthen the muscles and improve flexibility
* Orthotics or shoe inserts to support the foot or ankle
* Medications to relieve pain and reduce inflammation
* Surgery to correct the deformity or repair damaged tissues.
It is important to seek medical attention if you experience any persistent pain or discomfort in your feet, as early treatment can help prevent further damage and improve outcomes.
The term "multiple system atrophy" was first used in 1985 to describe this condition, which was previously known as "parkinsonism-dementia." MSA is classified into two main types: cerebellar type (MSA-C) and parkinsonian type (MSA-P). The cerebellar type is characterized by progressive cerebellar ataxia, loss of coordination, and balance problems, while the parkinsonian type is characterized by parkinsonism, rigidity, and bradykinesia.
The exact cause of MSA is not known, but it is believed to be related to abnormal protein accumulation in the brain and mitochondrial dysfunction. There is currently no cure for MSA, and treatment is focused on managing symptoms and improving quality of life. The progression of MSA is variable and can range from several years to several decades.
MSA is a rare disorder, with an estimated prevalence of 5-10 cases per million people worldwide. It affects both men and women equally, and the symptoms typically begin in adulthood, although some cases may present in children or older adults. The diagnosis of MSA is based on a combination of clinical features, imaging studies, and laboratory tests, including dopamine transporter scans and CSF analysis.
There are several prominent features of MSA that distinguish it from other neurodegenerative disorders, such as Parkinson's disease or Alzheimer's disease. These include:
1. Autonomic dysfunction: MSA is characterized by a range of autonomic dysfunctions, including orthostatic hypotension, urinary incontinence, and constipation.
2. Cerebellar ataxia: MSA is often associated with progressive cerebellar ataxia, which can lead to difficulties with coordination, balance, and gait.
3. Pyramidal signs: MSA can also present with pyramidal signs, such as bradykinesia, rigidity, and tremors, which are similar to those seen in Parkinson's disease.
4. Dysphagia: Many individuals with MSA experience difficulty swallowing, known as dysphagia, which can increase the risk of aspiration pneumonia.
5. Cognitive impairment: Some people with MSA may experience cognitive impairment, including memory loss and confusion.
6. Sleep disorders: MSA can also be associated with sleep disorders, such as rapid eye movement sleep behavior disorder and restless leg syndrome.
7. Emotional changes: MSA can cause significant emotional changes, including depression, anxiety, and apathy.
8. Impaired speech and language: Some individuals with MSA may experience impaired speech and language, including slurred speech and difficulty with word-finding.
9. Dysautonomia: MSA can also cause dysautonomia, which can lead to a range of symptoms, such as orthostatic hypotension, hypertension, and abnormal sweating.
10. Bladder and bowel dysfunction: MSA can cause bladder and bowel dysfunction, including urinary frequency, urgency, and constipation.
It is important to note that not all individuals with MSA will experience all of these symptoms, and the severity of the disease can vary greatly between individuals. If you suspect you or a loved one may be experiencing symptoms of MSA, it is essential to consult with a healthcare professional for proper diagnosis and treatment.
1. Strabismus (crossed eyes): A condition in which the eyes do not align properly and point in different directions.
2. Esotropia (crossed eyes): A condition in which one or both eyes turn inward.
3. Exotropia (wide-eyed): A condition in which one or both eyes turn outward.
4. Hypertropia (upward-pointing eyes): A condition in which one or both eyes elevate excessively.
5. Hypotropia (downward-pointing eyes): A condition in which one or both eyes lower excessively.
6. Diplopia (double vision): A condition in which two images of the same object are seen due to improper alignment of the eyes.
7. Nystagmus (involuntary eye movements): A condition characterized by rapid, involuntary movements of the eyes.
8. Ocular flutter: A condition characterized by small, rapid movements of the eyes.
9. Progressive supranuclear palsy (PSP): A rare degenerative disorder that affects movement and causes difficulty with eye movements.
10. Parkinson's disease: A neurodegenerative disorder that can cause eye movements to be slow, stiff, or irregular.
These disorders can have a significant impact on an individual's quality of life, affecting their ability to perform daily tasks, read, drive, and participate in social activities. Treatment options vary depending on the specific condition and may include glasses or contact lenses, prism lenses, eye exercises, and surgery. In some cases, medications such as anticholinergic drugs or botulinum toxin injections may be used to help improve eye movements.
There are several types of atrophy that can occur in different parts of the body. For example:
1. Muscular atrophy: This occurs when muscles weaken and shrink due to disuse or injury.
2. Neuronal atrophy: This occurs when nerve cells degenerate, leading to a loss of cognitive function and memory.
3. Cardiac atrophy: This occurs when the heart muscle weakens and becomes less efficient, leading to decreased cardiac output.
4. Atrophic gastritis: This is a type of stomach inflammation that can lead to the wasting away of the stomach lining.
5. Atrophy of the testes: This occurs when the testes shrink due to a lack of use or disorder, leading to decreased fertility.
Atrophy can be diagnosed through various medical tests and imaging studies, such as MRI or CT scans. Treatment for atrophy depends on the underlying cause and may involve physical therapy, medication, or surgery. In some cases, atrophy can be prevented or reversed with proper treatment and care.
In summary, atrophy is a degenerative process that can occur in various parts of the body due to injury, disease, or disuse. It can lead to a loss of function and decreased quality of life, but with proper diagnosis and treatment, it may be possible to prevent or reverse some forms of atrophy.
PCD typically affects adults between the ages of 30 and 70 years old and is more common in women than men. The exact cause of PCD is not fully understood, but it is thought to be an autoimmune response, where the immune system mistakenly attacks healthy cells in the cerebellum.
The diagnosis of PCD is based on a combination of clinical features, laboratory tests, and imaging studies. Laboratory tests may include blood tests to look for antineuronal antibodies and cerebrospinal fluid (CSF) analysis to rule out other causes of cerebellar degeneration. Imaging studies, such as MRI or CT scans, may be used to confirm the diagnosis and assess the progression of the disease.
Treatment for PCD is primarily focused on managing the symptoms and improving quality of life. This may include physical therapy, occupational therapy, and speech therapy to help with coordination, balance, and communication. In some cases, medications such as steroids or immunosuppressive drugs may be used to reduce inflammation and slow the progression of the disease.
Prognosis for PCD is generally poor, with a median survival time of around 2-3 years after diagnosis. However, some individuals with PCD may experience a more benign course of the disease, while others may experience a rapid decline in health. The exact prognostic factors for PCD are not fully understood and require further research.
Dysarthria can affect both children and adults, and the symptoms can vary in severity depending on the underlying cause of the condition. Some common symptoms of dysarthria include:
* Slurred or slow speech
* Difficulty articulating words
* Poor enunciation
* Stuttering or hesitation while speaking
* Difficulty with word-finding and language processing
* Limited range of speech sounds
* Difficulty with loudness and volume control
Dysarthria can be diagnosed by a speech-language pathologist (SLP), who will typically conduct a comprehensive evaluation of the individual's speech and language abilities. This may include a series of tests to assess the individual's articulation, fluency, voice quality, and other aspects of their speech.
There are several types of dysarthria, including:
* Hypokinetic dysarthria: characterized by reduced muscle tone and slow movement of the articulatory organs, resulting in slurred or slow speech.
* Hyperkinetic dysarthria: characterized by increased muscle tone and rapid movement of the articulatory organs, resulting in fast but imprecise speech.
* Mixed dysarthria: a combination of hypokinetic and hyperkinetic features.
* Dystonic dysarthria: characterized by involuntary movements and postures of the tongue and lips, resulting in distorted speech.
Treatment for dysarthria typically involves speech therapy with an SLP, who will work with the individual to improve their speech clarity, fluency, and overall communication skills. Treatment may include exercises to strengthen the muscles used in speech production, as well as strategies to improve articulation, pronunciation, and language processing. In some cases, technology such as speech-generating devices may be used to support communication.
In addition to speech therapy, treatment for dysarthria may also involve other healthcare professionals, such as neurologists, physical therapists, or occupational therapists, depending on the underlying cause of the condition.
Overall, dysarthria is a speech disorder that can significantly impact an individual's ability to communicate effectively. However, with the right treatment and support from healthcare professionals and SLPs, many people with dysarthria are able to improve their communication skills and lead fulfilling lives.
The term "anticipation" refers to the fact that the age of onset of the disorder or disease is anticipated or expected to be earlier in each succeeding generation. For example, if a child is born with a genetic disorder and their parents were both affected at a later age, it is likely that their children will also be affected at an earlier age.
Genetic anticipation can be seen in many inherited disorders, such as Huntington's disease, myotonic dystrophy, and fragile X syndrome. In these disorders, the mutated gene leads to progressive degeneration of cells and tissues, which can result in a wide range of symptoms including cognitive decline, motor dysfunction, and premature death.
Understanding genetic anticipation is important for predicting the course of inherited disorders and developing effective treatments. It can also inform the development of genetic counseling and testing programs to help families understand their risk of inheriting these disorders.
Optic atrophy is a condition where there is a degeneration or loss of the optic nerve fibers, leading to vision loss. It can be caused by various factors such as trauma, inflammation, tumors, and certain medical conditions like multiple sclerosis.
The symptoms of optic atrophy may include:
1. Blind spots in the visual field
2. Difficulty perceiving colors
3. Difficulty adjusting to bright light
4. Double vision or other abnormalities in binocular vision
5. Eye pain or discomfort
6. Loss of peripheral vision
7. Nausea and vomiting
8. Sensitivity to light
9. Tunnel vision
10. Weakness or numbness in the face or extremities.
The diagnosis of optic atrophy is based on a comprehensive eye exam, which includes a visual acuity test, dilated eye exam, and other specialized tests such as an OCT (optical coherence tomography) scan.
Treatment for optic atrophy depends on the underlying cause and may include medications to manage inflammation or infection, surgery to remove a tumor or repair damaged tissue, or management of associated conditions such as diabetes or multiple sclerosis. In some cases, vision loss due to optic atrophy may be permanent and cannot be reversed, but there are strategies to help improve remaining vision and adapt to any visual impairment.
There are several types of ophthalmoplegia, including:
1. External ophthalmoplegia: This type affects the muscles that control lateral and vertical movements of the eyes.
2. Internal ophthalmoplegia: This type affects the muscles that control rotational movements of the eyes.
3. Superior oblique paresis: This type affects the superior oblique muscle, which controls downward and outward movements of the eye.
4. Inferior oblique paresis: This type affects the inferior oblique muscle, which controls upward and outward movements of the eye.
Symptoms of ophthalmoplegia may include difficulty moving the eyes, double vision, droopy eyelids, and blurred vision. Treatment options depend on the underlying cause of the condition and may include physical therapy, prism lenses, or surgery.
Autosomal dominant cerebellar ataxia
Post viral cerebellar ataxia
Autosomal recessive cerebellar ataxia
Acute cerebellar ataxia of childhood
Autosomal recessive cerebellar ataxia type 1
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autoimmune polyendocrine syndrome type 1
Epstein-Barr virus-associated lymphoproliferative diseases
Upper limb neurological examination
List of OMIM disorder codes
Katherine Safford Harris
Olivopontocerebellar atrophy-deafness syndrome
Emery-Dreifuss muscular dystrophy
Diffuse large B-cell lymphoma associated with chronic inflammation
Epstein-Barr virus infection
Multiple system atrophy
Taipei Veterans General Hospital
List of diseases (C)
Bovine spongiform encephalopathy
Childhood immunizations in the United States
Short-term effects of alcohol consumption
Congenital disorder of glycosylation
Anti-NMDA receptor encephalitis
Ataxia and Cerebellar or Spinocerebellar Degeneration | National Institute of Neurological Disorders and Stroke
Autosomal dominant cerebellar ataxia, deafness and narcolepsy - NIH Genetic Testing Registry (GTR) - NCBI
Autosomal recessive cerebellar ataxia type 1: MedlinePlus Genetics
Unusual form of cerebellar ataxia | Neurology
Acute cerebellar ataxia in enteric fever - PubMed
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
Decreased cerebellar blood flow in postinfectious acute cerebellar ataxia | Journal of Neurology, Neurosurgery & Psychiatry
NIH VideoCast - NEI Sayer Lecture: Clinical features and molecular basis of the cerebellar-retinal degenerative disorder...
Cerebellar Ataxia | Pathophysiology of Disease Cases | AccessMedicine | McGraw Hill Medical
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia | Neurology Genetics
Subjects: Cerebellar Ataxia - Digital Collections - National Library of Medicine Search Results
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Spino Cerebellar Ataxia
HA Cerebellar Ataxia - Gordon Setter - Genimal Biotechnologies
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Spino Cerebellar Ataxia Australia Inc - Products for sale
OMIA:002110-9615: Ataxia, cerebellar, ATP1B2-related in Canis lupus familiaris - OMIA - Online Mendelian...
ESTABLISHING A NEW HUMAN IPSC-DERIVED CEREBELLAR ORGANOID MODEL FOR FRIEDREICH'S ATAXIA - iPSC Portal
IMSEAR at SEARO: Cerebellar ataxia after a single day of metronidazole use: Case report
Febrile-Induced Cerebellar Ataxia | Acupuncture Relief Project | Volunteer Community Health Clinic | Nepal
Surprising Number of Conditions Linked to Celiac Disease
Ataxia News, Research
Astereognosis - Wikipedia
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- ADCADN is an autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy/cataplexy, sensorineural deafness, and dementia. (nih.gov)
- Different CACNA1A mutations have been identified in other autosomal dominant conditions: mutations leading to a truncated protein in episodic ataxia type 2 (EA2), small expansions of a CAG trinucleotide in spinocerebellar ataxia type 6 and also in three families with EA2 features, and, finally, a missense mutation in a single family suffering from episodic ataxia and severe progressive PCA. (nih.gov)
- They are all inherited in an autosomal dominant manner and affected individuals generally have difficulties in controlling body movements, gait ataxia and other neurological abnormalities. (intergenetics.eu)
- The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person's nervous system (neither term constitutes a specific diagnosis). (nih.gov)
- Cerebellar and spinocerebellar degeneration have many different causes. (nih.gov)
- The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause. (nih.gov)
- Consider participating in a clinical trial so clinicians and scientists can learn more about ataxia and cerebellar or spinocerebellar degeneration and related disorders. (nih.gov)
- Spinocerebellar ataxia type 7 (SCA7) is an inherited neurological disorder characterized by cerebellar and retinal degeneration. (nih.gov)
- To determine the molecular basis for SCA7 cerebellar degeneration, we performed unbiased transcriptome profiling in SCA7 transgenic mice and have delineated a role for altered Ca++ regulation downstream of impaired sirtuin-1 function. (nih.gov)
- This work has led us to uncover decreased nicotinamide adenine dinucleotide (NAD+) as the basis for sirtuin-1 dysfunction in SCA7 cerebellar degeneration, and is yielding additional therapeutic approaches for remedying SCA7 disease phenotypes in model mice and in neurons derived from SCA7 patient stem cells. (nih.gov)
- The cerebellar ataxia HA is a degeneration of the cerebral cortex. (genimal.com)
- 6. Hashimoto's encephalopathy as a treatable adult-onset cerebellar ataxia mimicking spinocerebellar degeneration. (nih.gov)
- 10. [Paraneoplastic cerebellar degeneration]. (nih.gov)
Episodic ataxia type2
- Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control. (news-medical.net)
- Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been mapped to chromosome 19p13. (nih.gov)
- Replication factor C subunit 1 (RFC1) spectrum disorders are characterized by a variety of symptoms, including cerebellar ataxia , sensory neuropathy, and vestibular dysfunction, which may occur singularly or in various combinations. (bvsalud.org)
- The most common symptoms of cerebellar dysfunction that are seen in MS can include dysarthria, instability of the head and trunk, intention tremor and incoordination of voluntary movements and gait. (acupuncturereliefproject.org)
- Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency. (tum.de)
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals. (nih.gov)
- 19. [Anti-GAD antibodies in paraneoplastic cerebellar ataxia associated with limbic encephalitis and autonomic dysfunction]. (nih.gov)
- Friedreich's ataxia (FRDA), an inherited neurodegenerative disorder, is the most common form of hereditary ataxia in the United States affecting about 1 in every 50,000 people with no cure or effective treatment. (nih.gov)
- Researchers at the University of Miami Miller School of Medicine, McGill University and other institutions have found that a well-concealed genetic variation in the gene FGF14, called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement. (news-medical.net)
- A new study published on Dec. 14, 2022 in the New England Journal of Medicine reports the identification of a previously unknown genetic cause of a late-onset cerebellar ataxia, a discovery that will improve diagnosis and open new treatment avenues for this progressive condition. (news-medical.net)
- 2. Auto-immune cerebellar ataxia with anti-GAD antibodies accompanied by de novo late-onset type 1 diabetes mellitus. (nih.gov)
- 5. Autoantibodies to glutamic acid decarboxylase in three patients with cerebellar ataxia, late-onset insulin-dependent diabetes mellitus, and polyendocrine autoimmunity. (nih.gov)
- People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. (nih.gov)
- Our laboratory participates with great success in the external quality assessment scheme organized by the European Molecular Genetics Quality Network (EMQN), which is periodically applied for Spinocerebellar Ataxias (SCA). (intergenetics.eu)
- Clinical features and molecular basis of the cerebellar-retinal degenerative disorder Spinocerebellar ataxia type 7 : from mechanism to therapy / Albert La Spada. (nih.gov)
- Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. (omia.org)
- Ataxia is a non-specific clinical manifestation implying disfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. (news-medical.net)
- Notably, cerebellar organoids with long GAA repeats, which correlate with clinical disease severity, also showed a higher degree of mitochondrial abnormality in vitro . (nih.gov)
- 17. [Clinical presentation of immune mediated cerebellar ataxia]. (nih.gov)
- In a retrospective study of 280 sera from patients presenting with cerebellar signs, seven of whom had proved positive for the typical paraneoplastic serum antibodies that were requested by the clinicians, raised concentrations of antibodies to voltage-gated calcium channels or to glutamic acid decarboxylase were detected in a further seven sera. (ox.ac.uk)
- Peripheral neurological features include myopathy (signs include fatigue and exercise intolerance), ataxia, and peripheral neuropathy [ 5 ]. (nih.gov)
- For the CAG polyglutamine repeat diseases such a Huntington's and spinal cerebellar ataxias is a toxic gain of function mechanism. (nih.gov)
- While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. (nih.gov)
- Multiple sclerosis (MS) can often present with ataxia and slurred speech, although these are not typically the primary symptoms associated with this disease. (acupuncturereliefproject.org)
- Spinocerebellar ataxias constitute a heterogeneous group of neurodegenerative disorders (more than 15 types) with typical symptoms frequently resembling one another. (intergenetics.eu)
- This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. (nih.gov)
- Ataxia often occurs when parts of the nervous system that control movement are damaged. (nih.gov)
- Cerebellar Ataxia in RFC1 Spectrum Disorders]. (bvsalud.org)
- 1. [Autoantibodies associated with autoimmune-mediated cerebellar ataxia]. (nih.gov)
- 8. [Cerebellar Ataxia and Autoantibodies]. (nih.gov)
- 11. Reversibility of cerebellar GABAergic synapse impairment induced by anti-glutamic acid decarboxylase autoantibodies. (nih.gov)
- 12. Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. (nih.gov)
- 16. Prevalence of Autoantibodies and the Efficacy of Immunotherapy for Autoimmune Cerebellar Ataxia. (nih.gov)
- People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. (medlineplus.gov)
- This entry describes an ataxia form that is caused by a genetic variant in the ATP1B2 gene. (omia.org)
- 58-year-old male patient presents with ataxia, severe dizziness, vertigo and slurred speech. (acupuncturereliefproject.org)
- In summary, the newly established cerebellar organoid model provides new opportunities to investigate the fundamental pathophysiology of FRDA in vitro and develop innovative therapies. (nih.gov)
- We confirmed the generation of two primordial regions, the rhombic lip and cerebellar plate ventricular zone, from iPSC lines derived from healthy individuals and FRDA patients. (nih.gov)
- Cerebellar ataxic syndromes, although uncommon, have been reported previously in patients taking metronidazole. (who.int)
- Ingen havde isoleret cerebellar ataksi eller vestibulær arefleksi som eneste kliniske manifestation, mens 15 patienter havde sensorisk neuropati som isoleret udfald. (ugeskriftet.dk)
- Researchers at DZNE and the University Hospital Bonn, together with the Berlin-based company PeakProfiling GmbH, have developed a computer-assisted method that recognizes the severity of speech disturbances resulting from ataxia, a brain disease, with great accuracy. (news-medical.net)
- Parekh SV, Dsouza ME, Bhaisare SD, Abdulla A.. Cerebellar ataxia after a single day of metronidazole use: Case report. (who.int)
- 7. Refractory generalized seizures and cerebellar ataxia associated with anti-GAD antibodies responsive to immunosuppressive treatment. (nih.gov)
- 13. [Steroid treatment in four cases of anti-GAD cerebellar ataxia]. (nih.gov)
- 20. Responses to and Outcomes of Treatment of Autoimmune Cerebellar Ataxia in Adults. (nih.gov)
- In 20% of HM families, HM is associated with a mild permanent cerebellar ataxia (PCA). (nih.gov)
- Patient presents with ataxia with inability to walk or stand from a seated position without support. (acupuncturereliefproject.org)
- Here, we developed a novel 60-day organoid differentiation strategy that recapitulates the hallmarks of human cerebellar development. (nih.gov)