A family is presented with paroxysmal dystonic choreoathetosis transmitted as a dominant trait over five generations. The family is unusual in the marked responsiveness of the episodes to short periods of sleep in several members, in the very variable age of onset, and in the association with prominent myokymia in some cases. These overlap features suggest a link between paroxysmal dystonic choreoathetosis and familial paroxysmal ataxia with myokymia.. ...
List of 73 causes for Athetosis and Combination of rigidity and tremor and Facial and muscular rigidity and Gait disturbances, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
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Cerebral palsy can be grouped into three main types which describe the disorders or movement and posture that may be experienced by a person. These are called spasticity, athetosis and ataxia.. Spasticity occurs when muscles are high in tone (tension) but weak in strength. A person experiencing spasticity may have difficulty moving their limbs and adopting stable posture.. Athetosis refers to uncontrolled movements, which are often most noticeable when a person with this type of cerebral palsy commences movement. In addition, children with athetoid cerebral palsy often have very weak muscles or feel floppy when they are carried.. Ataxia is characterised by unsteady, shaky movements or tremor. People with ataxic cerebral palsy and related disabilities have difficulty using muscles to achieve balance and coordinated movement. This is the least common type of cerebral palsy and related disabilities.. It is important to note that the movement difficulties each person has will be unique. Often a ...
From the very beginning its important to understand that all three disorders involve abnormal involuntary non-stereotypical movement. The difference consists in the muscles affected, speed and style.. Chorea involves rapid, non-stereotypical,jerky, involuntary, repetitive, dance-like movements. The moves involve the distal muscle group more than the proximal.. Unlike chorea, athetosis is a slow non-stereotypical, repetitive, involuntary, writing movement that usually affects the upper limbs.. Ballismus is also a rapid non-stereotypical, involuntary, repetitive and relatively more violent move that affects the proximal muscle group more than the distal.. Many times athetosis and chorea occur together and that is called choreoathetosis.. The involuntary movements might merge into semipurposeful or purposeful acts that could mask them.. Chorea is a progressive neurological disorder that is caused most often by Huntingtons disease. Rheumatic fever can also cause what is called the Sydenhams ...
Medical negligence during childbirth can cause athetoid cerebral palsy. Contact us for a free consultation by a proven birth injury lawyer.
NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 31709disease definitioninfantile convulsions and paroxysmal choreoathetosis (icca) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.epidemiologythis disorder is rare but the exact prevalence is unknown.clinical descriptionbenign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. seizures are afebrile, partial or sometimes generalized, and normally disappear after the first year of life. during childhood or adolescence, affected individuals present with paroxysmal kinesigenic dyskinesia with frequent and recurrent episodic choreathetotic or dystonic movements that last less than 1 minute. the attacks ...
Do not omit digits from inclusive page numbers. The year, followed by a semicolon; the volume number and the issue number (in parentheses), followed by a colon; the initial page number, a hyphen, and the final page number, followed by a period, are set without spaces. 1. Rainier S, Thomas D, Tokarz D, et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol. 2004;61(7):1025-1029. 2. Hyduk A, Croft JB, Ayala C, Zheng K, Zheng Z-J, Mensah GA. Pulmonary hypertension surveillance United States, 1980 2002. MMWR Surveill Summ. 2005;54(5):1-28. |
When a person suffers an injury to the basal ganglia during birth, its possible that such an injury occurred because those overseeing the delivery did not perform properly. Contact The Fitzgerald Law Firm today to schedule a free initial consultation.
Diagnosis Code 333.71 information, including descriptions, synonyms, code edits, ICD-10 conversion and references to the diseases index.
Symtoms appear during the first year of infancy as delayed motor development and low muscle tone (hypotonia). The children have difficulty in coordinating movement and maintaining balance (ataxia), and some present involuntary movements (athetosis) and/or intense reflexes in the legs (spasticity). Most individuals with Salla disease have severe intellectual disability. Some have epileptic seizures during adolescence, usually in the form of absence seizures. Spasticity in the legs and arms increases with age, motor activity deteriorates and some lose the ability to walk.. ...
Athetosis is a condition in which there is a constant succession of slow, writhing, involuntary movements of flexion, extension, pronation.
Oral Medication:. Medications are usually used as the first line of treatment to relax tight or overactive muscles. While easy to use and appropriate to consider for children who need only mild reduction in muscle tone or for children with widespread spasticity, the use of oral medication for the management of abnormal tone has been somewhat disappointing in that impacts are often not ideal. For spasticity, dantrolene, baclofen, diazepam and tizanidine have been used. Other medications such as Artane have been used for dystonia and there are some preliminary reports of success with modafinil. There has been very limited success in using medications to treat dyskinesias, including dystonia, athetosis and hemiballismus.. Botulinum Toxin:. Botulinum toxin A therapy (Botox, Allergan, Corporation, Irvine, CA) is FDA approved for strabismus, hemifacial spasm, cervical dystonia, severe primary axillary hyperhydrosis and for cosmesis (wrinkles). Although approved throughout the world for treatment of ...
There are quite a few famous Neurologists in Multan. Some of the best Neurologists in Multan are . Some of the diseases & procedures that Neurologists in Multan cure or deal with are: Meningitis, Apraxia, Athetosis, Cerebral palsy, Chorea, Epilepsy treatment, ICP Monitoring. Contact the MyZindagi Multan health advisors for any information or advice relating to Neurologists in Multan.. ...
Fahrs Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahrs Syndrome can also include symptoms characteristic of Parkinsons disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.. ...
Glutaric aciduria 1 (GA1) [MIM:231670]: An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. {ECO:0000269,PubMed:14707522, ECO:0000269,PubMed:18775954, ECO:0000269,PubMed:24973495, ECO:0000269,PubMed:8541831, ECO:0000269,PubMed:8900227, ECO:0000269,PubMed:8900228, ECO:0000269,PubMed:9600243}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
The Paralympic Games are an attempt to provide an equal platform for athletes with disabilities to showcase their skills at a stage that lets them represent their countries. In order to differentiate between the various categories of legitimate disabilities, there are 10 categories, such as impaired muscle power, impaired passive range of movement, limb deficiency, leg length difference, short stature, hypertonia, ataxia, athetosis, vision impairment and intellectual impairment ...
Data can be acquired at frequencies up to % of the excitation frequency and╘ by CRC Press LLCexcitation frequency varies from Hz to kHz, although higher frequencies are attainable Linearpotentiometers can also measure displacement; they are considerably less expensive, approximately %of the cost of an LVDT. Dystonia is similar to weight lifting and athetosis is similar to run-ning. Further interventions in this patient may not be indicated, and thephysician may decide that doing more procedures on the patient would be unethical; how-ever, it would be more appropriate to have a discussion with the family and to educatethem about the condition and prognosis. She also relates thatshe believes she is being watched carefully by the FBI and that your conversation with her is probablybeing monitored. A -year-old man presents to a hospital with fatigue and fever of weeksр duration. With respect to injury,this effort is compromised by the absence of adequate nationalsurveillance information from all ...
A. Mannig. Magdalen College.. Contrast nephropathy is common in patients with diabetes, but thatcondition would not account for the cutaneous findings. Another technique for measuring energy use that has beenpromoted is the energy cost index, which is a measure in the change in heartrate with increased activity. There have been no reports of nonunions in chil-dren with CP with Unit rod instrumentation when copious amounts of allo-graft were used. The significance of this proper context issomewhat similar to the significance of having a child do spelling homeworkon Wednesday evening to pass a spelling examination on Thursday. The difference between athetosis and dystonia for the muscles issimilar to the difference between a weight-lifting athlete and a long-distancerunner. Computer modeling of thepathomechanics of spastic hip dislocation in children order 400mg ibuprofen visa. However, the patterns of CP have shifted more toward diplegia andspastic quadriplegia and away from hemiplegia and ...
Hi all, I am new to this forum,got info from a friend. Got a question.....I have a 16 year old son who has CP,spastic quadriapreses (spelling) with athetosis. Was always told he was not a candidate for a Rhizotomy. At the age of 9 he got a baclofen pump. 10 months later noticed pump was not working correctly, and found out the cath had a kink in it. Got that taken care of. In Sept of 2009 he had scoliosis surgery and now has rods in his back. In April of 2011 he was having withdrawls
BACKGROUND: The Dyskinesia Impairment Scale (DIS) is a new scale for measuring dystonia and choreoathetosis in dyskinetic Cerebral Palsy (CP). Previously, reliability of this scale has only been assessed for raters highly experienced in discriminating between dystonia and choreoathetosis. AIMS: The aims of this study are to examine the reliability of the DIS used by inexperienced raters, new to discriminating between dystonia and choreoathetosis and to determine the effect of clinical expertise on reliability. METHODS: Twenty-five patients (17 males; 8 females; age range 5-22 years; mean age = 13 years 6 months; SD = 5 years 4 months) with dyskinetic CP were filmed with the DIS standard video protocol. Two junior physiotherapists (PTs) and three senior PTs, all of whom were new to discriminating between dystonia and choreoathetosis, were trained in scoring the DIS. Afterward, they independently scored all patients from the video recordings using the DIS. Reliability was assessed by (1) ...
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Athetoid cerebral palsy or dyskinetic cerebral palsy (sometimes abbreviated ADCP) is a type of cerebral palsy primarily associated with damage, like other forms of CP, to the basal ganglia in the form of lesions that occur during brain development due to bilirubin encephalopathy and hypoxic-ischemic brain injury. Unlike spastic or ataxic cerebral palsies, ADCP is characterized by both hypertonia and hypotonia, due to the affected individuals inability to control muscle tone. Clinical diagnosis of ADCP typically occurs within 18 months of birth and is primarily based upon motor function and neuroimaging techniques. While there are no cures for ADCP, some drug therapies as well as speech, occupational therapy, and physical therapy have shown capacity for treating the symptoms. Classification of cerebral palsy can be based on severity, topographic distribution, or motor function. Severity is typically assessed via the Gross Motor Function Classification System (GMFCS) or the International ...
Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism which results from mutation in the gene for the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT); patients have hyperuricemia, gout, urinary tract calculi, and nephropathy which are effectively treated with allopurinol. There is also a syndrome of dystonia, chorea and athetosis, as well as involuntary self mutilative biting and aggression toward their caretakers, for which there is no treatment.. Kuvan™ is a form of tetrahydrobiopterin (BH4), and is approved to help lower the blood levels of phenylalanine in people who have phenylketonuria (PKU). LND patients have been found to have decreased BH4 in the spinal fluid and brain; BH4 is a precursor of dopamine, which has an effect on behavior. In an earlier study Dr Nyhan found that treatment of LND with 5-hydroxytryptophan and carbidopa abolished the self-injurious behavior but was uniformly transient.. This is a single site open-label protocol for eight subjects ...
8D21 Dyskinetic cerebral palsy - (extrapyramidal cerebral palsy) is characterized by impairment of voluntary movement because of the presence of interfering involuntary movements, and inappropriate co-contraction of agonist and antagonist muscles (dystonia). This group of disorders includes choreoathetotic cerebral palsy and dystonic cerebral palsy. The former is characterized by large amplitude, involuntary movements of mainly distal limbs(athetosis) with or without small amplitude, fleeting, asymmetric contractions of individual muscle groups (chorea). Dystonic cerebral palsy predominantly affects proximal trunk and limb muscles, which may show slow, persistent movements, leading to the adoption of unusual postures, such as torticollis. ...
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It belongs to the rare diseases. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly reported symptoms are initial truncal hypotonia, subsequent appendicular hypertonia, bradykinesia, cogwheel rigidity, generalized dystonia, and marked diurnal fluctuation. Other reported clinical features include difficulty in swallowing, oculogyric crises, somnolence, irritability, hyperthermia, and seizures. Chorea, athetosis, hypersalivation, rash with eczema, and sudden death have also been reported. Patients with mild phenotypes may deteriorate if given folate antagonists such as methotrexate, which can interfere with a salvage pathway through which dihydrobiopterin is converted into tetrahydrobiopterin via dihydrofolate reductase. Treatment options include substitution with neurotransmitter precursors (levodopa, ...
There are four types of cerebral palsy: spastic cerebral palsy, athetoid cerebral palsy, ataxic cerebral palsy and mixed cerebral palsy.. Development of the brain starts in early pregnancy and continues until about age three. Damage to the brain during this time may result in cerebral palsy. This damage interferes with messages from the brain to the body and from the body to the brain. Cerebral palsy is not a progressive condition-damage to the brain is a one-time event so it will not get worse.. All children with cerebral palsy have damage to the area of the brain that controls muscle tone. As a result, they may have increased muscle tone, reduced muscle tone, or a combination of the two (fluctuating tone).. While birth trauma can cause different kinds of cerebral palsy, the most common form of cerebral palsy associated with the lack of oxygen at birth is spastic cerebral palsy. Spastic cerebral palsy is the most common type of cerebral palsy, accounting for 80% of all cerebral palsy cases. ...
Cerebral Palsy is a term used to describe a group of chronic conditions affecting body movements and muscle coordination. It is caused by damage to the brain, usually occurring during fetal development, or during infancy. It can also occur before, during or shortly following birth. Cerebral Palsy is neither progressive (it doesnt get worse with time), nor communicable (you cant catch it). It is one of the most common disabling conditions of childhood. There are 4 types of Cerebral Palsy: Spastic Cerebral Palsy characterized by stiff and difficult movement; Athetoid Cerebral Palsy characterized by involuntary and uncontrolled movement; Ataxic Cerebral Palsy characterized by a disturbed sense of balance and depth perception; and Mixed Cerebral Palsy.
Boden BP, Osbahr DC, et al. Low-risk stress fractures. Am J Sports Med. 2001;29(1):100-111. Bono CM. Low-back pain in athletes. J Bone Joint Surg Am. 2004;86-A(2):382-396. Eddy D, Congeni J, et al. A review of spine injuries and return to play. Clin J Sport Med. 2005;15(6):453-458. Herman MJ, Pizzutillo PD. Spondylolysis and spondylolisthesis in the child and adolescent: A new classification. Clin Orthop Relat Res. 2005;(434):46-54. Lumbar spondylolysis. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T116565/Lumbar-spondylolysis. Updated July 16, 2015. Accessed September 13, 2016. Peer KS, Fascione JM. Spondylolysis: a review and treatment approach. Orthop Nurs. 2007;26(2):104-111. Sakai T, Yamada H, et al. Lumbar spinal disorders in patients with athetoid cerebral palsy: a clinical and biomechanical study. Spine. 2006;31(3):E66-E70. ...
AIM: To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy (CP). METHOD: Six electronic databases were searched for dystonia and choreoathetosis scales with original psychometric data for children with CP aged 0 to 18 years. RESULTS: Thirty-four papers met the inclusion criteria, which contained six scales purported to measure dystonia and/or choreoathetosis in children with CP: the Burke-Fahn-Marsden Dystonia Rating Scale; Barry-Albright Dystonia Scale; Unified Dystonia Rating Scale; Movement Disorder-Childhood Rating Scale; Movement Disorder-Childhood Rating Scale 0-3 Years; and the Dyskinesia Impairment Scale ...
The type of cerebral palsy (ataxic, athetoid, mixed or spastic) are classified based on the type of movement problems and area of the body is affected.
Cerebral palsy is a condition that affects approximately two children out of every thousand born. The extent to which each child is affected varies depending on the severity of the condition, as well as the type - spastic, which is the most common and causes muscular immobility; ataxic, which causes low muscle tone and poor coordination; or athetoid, which leads to a general lack of coordination and an inability to maintain proper posture. In spite of there being several forms of this relatively common condition, there are still some general facts that are true across the board. ...
Copper, Gene, Mutations, Diagnosis, Disease, DNA, Mutation, Report, Wilson Disease, Chromosomes, Patients, Screening, Wilsons Disease, Arms, Athetoid Movements, Cell, Coding, Dysarthria, Hormone, Hypotonia
Lesch-Nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. Purines are protein molecules that are important for the metabolism of RNA and DNA, which make up our genetic codes. Lesch-Nyhan syndrome is characterized by uric acid build-up, neurologic disability, and behavioral problems, including self-injury. It is a rare condition.
Two patients with coma, choreoathetoid movements, and myoclonus were found to be poisoned with tricyclic antidepressants. Physostigmine salicylate, a centrally
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder characterized by recurrent dystonic or choreoathetoid attacks triggered by sudden voluntary movements. Under the condition of psychological burden, some patients attacks may get worsened with longer duration and higher frequency. This study aimed to assess nonmotor symptoms and quality of life of patients with PKD in a large population. METHODS: We performed a cross-sectional survey in 165 primary PKD patients from August 2008 to October 2016 in Rui Jin Hospital, using Symptom Check List-90-Revised (SCL-90-R), World Health Organization Quality of Life-100 (WHOQoL-100), Self-Rating Depression Scale, and Self-Rating Anxiety Scale ...
Diabetes Mellitus commonly presents as polyuria, polydipsia, fatigue and polyphagia, though patients presenting with acute complications at the time of diagnosis are not uncommon. Movement disorders like chorea, hemichorea-hemiballismus, choreoathetosis are rarely associated with metabolic derangements. Hyperglycemia-induced involuntary movements (HIIM) are rarer and less well known. In this article, we describe two diabetic patients who developed abnormal movements, one developed hemichorea-hemiballism (HCHB) and the other onedeveloped nonketotic hyperglycemic (NKH) chorea which are unusual and very rare presentations.. ...
People with cerebral palsy may present with physical and mental challenges that have implications for oral care. Before the appointment, obtain and review the patients medical history. Consultation with physicians, family, and caregivers is essential to assembling an accurate medical history. Also, determine who can legally provide informed consent for treatment.. The different TYPES OF CEREBRAL PALSY are classified according to associated motor impairments:. Spastic palsy presents with stiff or rigid muscles on one side of the body or in all four limbs, sometimes including the mouth, tongue, and pharynx. People with this form of cerebral palsy may have legs that turn inward and scissor as they walk, or arms that are flexed and positioned against their bodies. Many also have intellectual disability, seizures, and dysarthria (difficulty speaking).. Dyskinetic or athetoid palsy is characterized by hypotonia and slow, uncontrolled writhing movements. People with this type of cerebral palsy ...
The auto-aggressive behavior that characterizes the Lesch-Nyhan syndrome1 is unique among behavioral abnormalities in that the genetic and molecular basis of the disorder has been firmly established.2...
AT is typically an AR childhood disease that one can read about in a 1980 edition of Adams and Victor. Variant AT occurs in older adults as a forme fruste perhaps of the pediatrics form. It is described in about 13 patients. Patients usually had young onset movement disorders, either choreoathetosis or resting tremor. Distal muscle weakness occurred in one patient. By age 27 patients began to experience progressive cerebellar atrophy with eventual development of dysarthria in all, continued movement disorders, nystagmus, dystonias and oculomotor apraxias. EMG/NCS showed either anterior horn cell involvement or sensorimotor polyneuropathy. Cerebellar atrophy on imaging affected vermis primarily ...
Effectively reduces, vasoconstriction, hypometabolism, increases circulation and biological energy, anti-coagulant.. Effects: Carnelian - cooling, moist, harmonising, anti-allergenic. Diamond - stimulating, invigorating, clarifying, anti-depressant, anti-coagulant. The frequency used with the Lux IV or Stellar Deluxe is 8.3Hz [The Orange Push Button Switch]. High & Low Differential Reading. Many conditions will involve territories of both high and low readings. For example disabled patients suffering with spastic, athetoid, dystonic and choreiform muscular problems will present both high an low reading on their limbs depending on the amount of circulation and nerve energy levels in any given muscle group. This is the same for stroke patients with paralysis, some muscles will be under tension with excessive energy and other muscle groups will be with a very low level of energy, possessing no tension or feeling.. Using The IR Bioscanner. Example Of Use For Back Problems. Set the IR Bioscanners ...
Another name for Acute Dystonic Reaction is Acute Dystonic Reaction. What is an acute dystonic reaction? A person with an acute dystonic reaction has ...
Another name for Acute Dystonic Reaction is Acute Dystonic Reaction. Notify your doctor for an acute dystonic reaction and any of the following: * Muscle ...
Complete resolution of symptoms is expected following treatment. However, symptoms may reoccur up to 72 hours later. No long-term sequelae are expected from acute dystonic reactions once the inciting ... more
Patient 1 was a 47-year-old woman who presented with paroxysmal abnormal movement since childhood. She was first seen in 2004. The attack was characterised by dystonic painful posture with upward or downward deviation of the eyes, head turning, shoulder abduction and extensions, lower limb dystonia, impaired speech, and occasionally stepping movements, with preserved consciousness. The attacks lasted for 1 to 2 minutes with a frequency of up to 8 times a day. Each attack was precipitated by stress or being startled, for example, being approached by a car unexpectedly when crossing the road, frightened by a cockroach, a sudden phone call, or an abrupt movement. Occasionally, the attack could occur during sleep. There was no incontinence. The patient had normal intelligence. Physical examination, biochemical tests, computed tomography of the brain, and electroencephalography were normal. The attacks were controlled with carbamazepine and frequency of attacks reduced to fewer than 3 times a day and ...
... is caused by hyperuricemia (high serum levels of uric acid) due to a defective gene called the hypoxanthine guanine phosphoribosyltransferase. Patients with this syndrome are prone to have uric acid kidney stones and mental retardation. It is inherited as an X-linked recessive condition ...
Lesch-Nyhan Disease (LND) is a rare X-linked recessive metabolic and neurological syndrome due to the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). Besides its well known "housekeeping" function this purine salvage enzyme has revealed an unexpected role in neurodevelopment, unveiled by the peculiar neurological symptoms flanking hyperuricemia in LND: dystonia, choreoathetosis, compulsive self-injurious behaviour. Several lines of research have tried to find the molecular basis for the neurological phenotype after the disease was first described in 1964. Dopaminergic deficit was then found to underlie the neurologic symptoms but the aetiology for such alteration seemed inexplicable. A number of detailed studies in the last 50 years addressed the genetic, metabolic, cognitive, behavioral and anatomical features of this disease. Initial investigations seeked for accumulation of toxic metabolites or depletion of essential molecules to disclose potential connections between ...
The movement and posture abnormalities that are characteristic of cerebral palsy are associated with underlying abnormalities of muscle tone, including dystonia, spasticity, and rigidity. The subtypes of cerebral palsy are defined according to the predominant muscle tone abnormality, its distribution and severity. There is widespread agreement that CP subtypes should be divided into the following groups. Spastic subtypes (hemiplegia: unilateral asymmetric spasticity; diplegia: bilateral symmetric spasticity, lower limbs more affected than upper limbs; quadriplegia: bilateral symmetric spasticity, upper and lower limbs affected equally), dystonic or athetotic type; and other miscellaneous types: hypotonic, mixed types, etc. These descriptive definitions are not useful when forming homogeneous cohorts of CP subtypes in rehabilitation research studies. Even when a preceding training session establishes precise criteria for each subtype based on these definitions and uses a four limb approach ...
A research team, headed by Theodore Friedmann, MD, professor of pediatrics at the University of California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimers, Parkinsons and Huntingtons diseases. The findings, published in the October 9, 2013 issue of the journal PLOS ONE, provide the first experimental picture of how gene expression errors impair the ability of stem cells to produce normal neurons, resulting instead in neurological disease. More broadly, they indicate that at least some distinctly different neurodevelopmental and neurodegenerative disorders share basic, causative defects. The scientists say that understanding defects in Lesch-Nyhan could help identify errant processes in other, more common neurological disorders, perhaps pointing the way to new kinds of ...
List of causes of Involuntary movements and Communication symptoms, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.