Michael Gehr, of Edmond, and his family are on a mission to help find a cure for a rare genetic disease that he was diagnosed ...

Recessive mutations in POLR3A exhibit considerable phenotypic diversity, spanning from severe childhood-onset hypomyelinating leukodystrophic syndrome to less severe gait disorders, which may present ...

Human observer-based assessments of Cerebellar Ataxia (CA) are subjective and are often inadequate to track mild motor symptoms. This study examines the potential use of a comprehensive sensor-based ...

Friedreich ataxia (FRDA) is the most common type of inherited ataxia. It is a neurodegenerative disorder characterized by progressive gait and limb ataxia, dysarthria, areflexia, and reduced ...

Based on that, sporadic ataxia is defined as a neurological condition characterized by ataxia of adult onset, usually over 40 years old, with family history negative for ataxia or its related symptoms ...

Education of patients and families regarding symptoms of concern and prompt reporting remains important, as is regular physical examination. Blood-based biomarkers with suggested clinical utility ...

Results The patient presented with exercise-induced paroxysmal gait ataxia and areflexia as an atypical phenotype associated with a novel homozygous DARS2 mutation. These features showed an excellent ...

When you have Friedreich’s ataxia (FA), there’s a lot to learn and do. Find out what is, what kinds of therapies may help, and where to find support.

Learn about hemiplegic gait a walking problem caused by a stroke or brain injury Our expert explains the symptoms causes and treatments available to help people ...

Symptoms include difficulties with balance, coordination, and speech (ataxia symptoms). In Japan, approximately 30,000 people are affected by SCA, with one-third of cases being hereditary.

Symptoms include difficulties with balance, coordination, and speech (ataxia symptoms). In Japan, approximately 30,000 people are affected by SCA, with one-third of cases being hereditary.