GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

Excerpt

Sirs: Two Italian siblings, a 18-year-old man and a 12-year-old girl, were admitted to our hospital with peripheral neuropathy. The symptoms had started at the age of 5 and 6 years with abnormal gait and weakness in distal leg muscles. The two sibs showed a clinical picture characterized by wasting and severe weakness of the small hand muscles (MRC strength scale of III/V in the abductor brevis and opponens pollicis, abductor digiti minimi, interossei and lumbricali), gross atrophy and weakness of distal leg muscles, pes cavus, steppage gait with bilateral foot drop. Tendon reflexes in the upper limbs and knee reflexes were brisk (4+) and tendon tap to quadriceps showed thigh adductor muscle activation; ankle reflexes were absent. The plantar reflex was difficult to assess owing to the marked weakness of dorsiflexor muscles of the toe. Vibration sense was slightly reduced at ankles. Cranial nerves were intact. Neither patient showed hoarseness or vocal cord paralysis. …