questions 5

Friedreich's Ataxia

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Topic updated on 08/22/16 3:22pm

Snapshot
  • A 23 year old male with a past medical history of diabetes mellitus presents with muscle weakness, staggering gait with frequent falling, dysarthria and a curvature in his upper spine.  On physical exam the patient is noted to have marked muscle weakness (2/5 in upper and lower extremitites), a loss of deep tendon reflexes, nystagmus as well as pes cavus and kyphoscoliosis.  Patient had a recent ED visit for pneumonia and a bedside ultrasound demonstrated a hypertrophic cardiomyopathy.
Introduction
  • friedrichsCongenital impairment of mitochondrial function leading to cerebellar and spinal cord degeneration
    • due to a mutation in the frataxin gene which is essential for mitochondrial iron regulation
  • Presents in childhood
  • Autosomal recessive
    • trinucleotide repeat disorder (GAA) on chromosome 9
Presentation
  • Symptoms 
    • staggering gait
    • frequent falling
    • wheelchair bound by first decade
    • insulin resistance
    • dysarthria
  • Physical exam
    • nystagmus
    • neurological sequelae
      • decreased vibratory and proprioceptive senses
      • muscle weakness
      • loss of deep tendon reflexes
    • musculoskeletal deformities
      • pes cavus
      • hammer toes
      • kyphoscholiosis
Prognosis and Complications
  • Death in adolescence most commonly due to cardiac arrhythmia
    • a sequlae of hypertrophic cardiomyopathy


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Qbank (3 Questions)

TAG
(M1.NE.30) An 8-year-old boy is referred to your neurology clinic with the chief complaint of "trouble walking." His mother believes her son's condition has gradually worsened over the past several months with the recent development of difficulty coordinating his arms. Physical examination is notable for an ataxic gait, nystagmus, and mild dysarthria. You also observe the findings in Figure A on musculoskeletal examination. His mother believes that her husband's brother suffered from similar complaints and passed away at the age of 37 years. Which physical exam findings would you statistically most likely find in this patient's 3-year-old brother? Topic Review Topic
FIGURES: A          

1. Systolic ejection murmur
2. Telangiectasia
3. Mental retardation
4. Pes cavus
5. Normal physical exam

PREFERRED RESPONSE ▶
TAG
(M1.NE.72) An 8-year-old boy is brought to the pediatrician because his mother is concerned about recent behavioral changes. His mother states that she has started to notice that he is slurring his speech and seems to be falling more than normal. On exam, the pediatrician observes the boy has pes cavus, hammer toes, and kyposcoliosis. Based on these findings, the pediatrician is concerned the child has a trinucleotide repeat disease. Which of the following trinucleotide repeats is this child most likely to possess? Topic Review Topic

1. CGG
2. GAA
3. CAG
4. CTG
5. GCC

PREFERRED RESPONSE ▶
TAG
(M1.NE.101) A 4-year-old male presents with a 1-year history of swaying while walking and recent episodes of tripping when ambulating. He has trouble trying to sit and get up from chairs, as well as walking up the stairs to his bedroom. On physical exam, the pediatrician notices nystagmus, absent deep tendon reflexes, significant loss of vibratory and proprioceptive sensation in his extremities, pes cavus, and slight kyphoscoliosis. A blood sample is sent for DNA sequencing and the results show a significant expansion of the trinucleotide GAA on chromosome 9. Which of the following diseases displays a similar mode of inheritance as the disease affecting this patient? Topic Review Topic

1. Osteogenesis imperfecta
2. von Gierke's disease
3. Menke's disease
4. Fragile X syndrome
5. Leber hereditary optic neuropathy

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