Neuromuscular and Genetic Neurological Disorders
Friedreich Ataxia and Pierre-Marie Disease
Friedreich Ataxia (AR)
Friedreich ataxia is an autosomal recessive (AR) disorder characterized by childhood onset, mutations in the FRDA gene, and GAA triplet repeats. It involves the degeneration of posterior columns (decreased vibration and position sense), corticospinal tracts (positive Babinski sign), and peripheral nerves (areflexia), with mild cerebellar involvement.
- Clinical Features: Progressive gait ataxia, dysarthria, dysphagia, and preserved cognition.
- Associated Conditions: Pes cavus, scoliosis, diabetes mellitus, and hypertrophic cardiomyopathy.
- Prognosis: Wheelchair dependence typically occurs around 10 years after onset, with death occurring around age 35, usually due to cardiac complications.
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