Friedreich's ataxia (FA) is a rare but devastating genetic disorder. Those with the condition are often diagnosed between 5 ...
CLEVELAND, Ohio. Julie Clarich is one of few people born with a condition called ataxia. The progressive movement disorder normally emerges anywhere from early childhood to adulthood. And, even though ...
While autoimmune cerebellar ataxia (a loss of muscle coordination) can lead to severe disability with some patients becoming wheelchair-bound, there are factors that may help to predict better ...
Clinical exome sequencing (CES) in patients with adult and sporadic-onset presentations of chronic progressive cerebellar ataxia is a high-yield test and should be considered in the routine genetic ...
Friedreich’s ataxia (FA) is an autosomal recessive disorder caused by mutations in the FXN gene and characterized by cardiomyopathy, gait ataxia and sensory loss, with cardiac complications the main ...
Ataxia-telangiectasia is an autosomal recessive disorder caused by a defect in the ATM gene mapped to chromosome 11q22.3. The ATM gene product is involved in the detection of damaged DNA and plays a ...
ROCHESTER, Minn. -- While autoimmune cerebellar ataxia (a loss of muscle control coordination) can lead to severe disability with some patients becoming wheelchair-bound, there are factors that may ...
Dr. Linda Snider, a diagnostic radiologist with Methodist Hospital, is a planner. Because her father had ataxia, which can be inherited, she got tested. Now she’s reaching out to others with the ...
At least one in 100 horses at some point in its life will lose the ability to control its gait as a result of developing the neurological disorder ataxia. Once found to be ataxic, the horse is often ...
The clinical diagnosis of progressive supranuclear palsy (PSP) and multiple system atrophy (MSA) remains challenging due to heterogeneity of the diseases. The final antemortem diagnosis was incorrect ...
Abraham Lincoln’s appearance and historical documents that note his especially clumsy gait have long caused researchers to puzzle over whether he may have had a genetic disorder called Marfan syndrome ...
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