About The Medical Condition Azorean Disease, Nervous System
Find the definition of the medical term Azorean Disease, Nervous System. Azorean Disease, Nervous System defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Azorean Disease, Nervous System
| Azorean Disease, Nervous System Medical Condition |
|---|
What's The Definition Of The Medical Condition Azorean Disease, Nervous System?
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
- Crest, Neural ‐ A strip of specialized ectoderm flanking each side of the embryonal…
- PN-200-110 ‐ A potent antagonist of CALCIUM CHANNELS that is highly selective…
- Antibodies, Allotypic ‐ Hereditary serologic types based on antigenic differences in…
- Photosystem II Reaction Center ‐ A system consisting of proteins and cofactors which facilitates…
- Fatigue, Voice ‐ Disorders of voice pitch, loudness, or quality. Dysphonia refers…
- Drug Combinations, Anticancer ‐ The use of two or more chemicals simultaneously or sequentially…
- Conformation, Protein beta-Sheet ‐ The level of protein structure in which regular hydrogen-bond…
- Stove-in Chest ‐ A complication of multiple rib fractures, rib and sternum fractures,…
- Prenatal Injury ‐ Delayed effects on offspring of maternal or fetal prenatal exposure…
- Rates, Fertility ‐ The number of births in a given population per year or other…