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
- Congenital 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
- kyphoscholiosis
Prognosis and Complications
- Death in adolescence most commonly due to cardiac arrhythmia
- a sequlae of hypertrophic cardiomyopathy