Hereditary motor and sensory neuropathy type II followed in the next two generations by a clinically distal motor...

Four members in 3 generations of a family are reported, who suffered from dominantly inherited hereditary motor and sensory neuropathy Type II. The diagnosis was not made in the first patient, seen at the age of 11 years, because she had no sensory symptoms. The presence of partial denervation in the EMG led to a mistaken diagnosis of distal chronic spinal muscular atrophy. Examination of her mother 11 years later and of her uncle after a further 6 years clearly established the correct diagnosis. Electrophysiological findings in all patients supported the diagnosis of hereditary motor and sensory neuropathy Type II.