Friedreich’s Ataxia

Presentation:
The patient, J.C., is a 19 year old male. After his wisdom teeth removal, his oral surgeon noticed that he “seemed off balance” and recommended a neurological evaluation. J.C. was physically active in high school, but reports a slight deterioration in coordination over the past months. He appears well-nourished and in good health. J.C. has no past medical history and no family history of genetic conditions exists. J.C.’s physical exam reveals a gait disturbance and mildly diminished deep tendon reflexes in his bilateral lower extremities. No evidence of scoliosis. J.C.’s speech is unaffected.

Differential Diagnosis:
Friedreich's ataxia, vitamin E deficiency ataxia, some other form of ataxia, hereditary motor and sensory neuropathy type I and II

Diagnosis:
MRI of brain and spinal cord with IV contrast: WNL - No signs of cerebellar atrophy are present.
2D Echocardiogram: WNL - No evidence of hypertrophic cardiomyopathy present.
Serum Vitamin E level: WNL

A complete ataxia evaluation revealed a frataxin mutation on Chromosome 9. J.C. had an expanded GAA repeat of the frataxin gene, with number of repeats = 1109 and 525. Friedreich's ataxia is an autosomal recessive disorder caused by an unstable GAA trinucleotide repeat expansion (greater than 120 repeats) in the first intron of the frataxin gene on chromosome 9 in both alleles.

Treatment:
No existing treatment is available to slow the progression of Friedreich's Ataxia.

Outcome:
J.C. was encouraged to participate in physical therapy and occupational therapy to preserve muscle function and maintain his independence. The importance of remaining as physically active as possible was emphasized as well. At-risk members of J.C.’s family were counseled regarding the need for genetic testing.