Presentation
Musculoskeletal
- Proximal Muscle Weakness
Pes cavus Upper limb muscle weakness Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Foot dorsiflexor weakness Kyphoscoliosis Proximal muscle weakness Upper limb muscle weakness Abnormality of the nervous system Areflexia [ncbi.nlm.nih.gov]
Neurologic
- Areflexia
[…] weakness Pes cavus Upper limb muscle weakness Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Foot dorsiflexor weakness Kyphoscoliosis Proximal muscle weakness Upper limb muscle weakness Abnormality of the nervous system Areflexia [ncbi.nlm.nih.gov]
- Polyneuropathy
An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. It has been described exclusively in families originating from North-Western Africa. Onset occurs in the second decade of life. [ncbi.nlm.nih.gov]
Workup
Other Test Results
- Nerve Conduction Velocity Decreased
[…] motor nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Distal sensory impairment Onion bulb formation Peripheral axonal atrophy Steppage gait IMPORTANT NOTE: NIH does not independently verify information submitted to the [ncbi.nlm.nih.gov]