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

 

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.

 

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