About The Medical Condition Type 3 Spinocerebellar Ataxia
Find the definition of the medical term Type 3 Spinocerebellar Ataxia. Type 3 Spinocerebellar Ataxia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Type 3 Spinocerebellar Ataxia
| Type 3 Spinocerebellar Ataxia Medical Condition |
|---|
What's The Definition Of The Medical Condition Type 3 Spinocerebellar Ataxia?
A dominantly-inherited ataxia first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, dysarthria, postural instability, nystagmus, eyelid retraction, and facial fasciculations. Dystonia is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features muscle atrophy and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Mange ‐ Infestations with arthropods of the subclass ACARI, superorder…
- Disease, Postphlebitic ‐ Post-thrombotic complications, including destruction of the valves…
- Emergency Treatment ‐ First aid or other immediate intervention for accidents or medical…
- Epidemic Acute Poliomyelitis ‐ An acute infectious disease of humans, particularly children,…
- Smegma ‐ A foul-smelling accumulation of SEBUM and desquaminated epidermal…
- Filtration Implants, Glaucoma ‐ Devices, usually incorporating unidirectional valves, which are…
- Diseases, Sclera ‐ General disorders of the sclera or white of the eye. They may…
- Dehydrogenase, NADPH-Dependent Glutamate ‐ An enzyme that catalyzes the conversion of L-glutamate, H2O,…
- Orofacial Dyskinesias, Idiopathic ‐ A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM;…
- Voluntary Male Sterilizations ‐ Procedures for the purpose of rendering individuals incapable…