Immunodeficiency in ataxia telangiectasia (A-T) is less severe in patients expressing some mutant or normal ATM kinase activity. We, therefore, determined whether expression of residual ATM kinase ...

Peripheral neuropathy has been identified in children with mitochondrial encephalomyopathies but not as a main clinical landmark. Here we report the clinical, electrophysiologic, biochemical, and ...

The family of disorders known as ataxia can impair speech, balance and coordination, and have varying levels of severity. Scientists have identified a new member of this group of conditions which is ...

If you have impaired muscle coordination or control, you might have a type of ataxia. This condition is rare, but it can make it difficult to maintain balance, speak, or move. “Ataxia” is the medical ...

Friedreich’s ataxia is a rare genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech. It’s also known as spinocerebellar degeneration. “Ataxia” ...

Ataxia is a form of movement disorder. There is loss of balance and physical co-ordination leading to difficulty in walking normally. The Cerebellum of the brain is normally responsible for ...