Definition
A rare hereditary ataxia, also called spinocerebellar ataxia type 3, that is characterized by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all MJD patients experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements.
URL Name
YF-3000-0950-500
Third Level Code
YF-3000
Taxonomy Code
YF-3000.0950-500
Parent Code
YF-3000.0950
Family Code
Y
Second Level Code
YF
Fifth Level Code
YF-3000-0950-500
Fourth Level Code
YF-3000-0950
Use References
MJD, Spinocerebellar Ataxia Type 3
Publication Status
Draft