About The Medical Condition Disease, Joseph
Find the definition of the medical term Disease, Joseph. Disease, Joseph defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, Joseph
| Disease, Joseph Medical Condition |
|---|
What's The Definition Of The Medical Condition Disease, Joseph?
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
- Hereditary Choreas ‐ Acquired and hereditary conditions which feature CHOREA as a…
- Pigments, Bile ‐ Pigments that give a characteristic color to bile including:…
- Median Neuropathy, Proximal ‐ Disease involving the median nerve, from its origin at the BRACHIAL…
- Villus, Chorionic ‐ The threadlike, vascular projections of the chorion which enter…
- Committees, Drug ‐ An advisory group composed primarily of staff physicians and…
- Glucan Phosphorylase ‐ A class of glucosyltransferases that catalyzes the degradation…
- Angiitis ‐ Inflammation of a…
- Lidocaine Monohydrochloride, Monohydrate ‐ A local anesthetic and cardiac depressant used as an antiarrhythmia…
- Disorder, Coagulation Protein ‐ Hemorrhagic and thrombotic disorders resulting from abnormalities…
- Forebrain ‐ The part of the brain developed from the most rostral of the…