Friedreich ataxia
An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.
MONDO:0005045
hypertrophic cardiomyopathy
excluded_subClassOf
MONDO:0005267
heart disorder
excluded_subClassOf
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0020046
autosomal recessive degenerative and progressive cerebellar ataxia
is_a
FA
exact
FRDA
exact
Friedreich ataxia
exact
Friedreich's Ataxia
exact
Friedreich's ataxia
exact
hereditary spinal ataxia
related
hereditary spinal sclerosis
related
spinocerebellar ataxia, Friedreich
related
SPCC1183.03c