FRIEDREICH’S ATAXIA

A 8 year old male presents with progressive difficulty in walking, hand clumbsiness, and decreased visual acuity. He has previously been diagnosed with a cardiomyopathy and has been treated for congestive heart failure. He is the product of a consanguineous marriage. On physical exam he has normal vital signs, has kyphoscliosis, and has a left foot deformity (pes cavus). Neurologically, he has impaired proprioreception, vibration sense, and temperature sensation. He exhibits wide-based ataxia. Laboratory values reveal a fasting serum glucose of 210mg/dl.

1. Based on the above clinical presentation the most likely diagnosis is:

A. Ataxia-Telangiectasia

B. Friedreich’s Ataxia

C. Kennedy syndrome(bulbospinal atrophy)

D. Adrenoleukodystrophy

E. Amotrophic lateral sclerosis

ANSWER: B

2. Which of the following statements(s) is/are true regarding ataxia telangiectasia ?

A.Many patients develop T-cell lymphomas/leukemia

B. The process is autosomal dominent

C. Many patients develop diabetes mellitus.

D.Many patients develop cardiomyopathies and congestive heart failure

E. All of the above

ANSWER: A

3. Which of the following statement(s) is/are true regarding Friedreich’s ataxia ?

A. It is autosomal recessive

B. About 10% of patients develop diabetes mellitus

C. Many patients develop cardiac disease and congestive heart failure

D.It is a progressive disease with most patients dying from cardiac disease or recurrent pulmonary infections.

E. All of the above

ANSWER: E