[A family of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V) presenting with phenotypic uniformity including onset in early childhood].

Abstract excerpt

The proband was a 38 year old mother, who had begun to walk abnormally at one year old. She developed weakness and wasting in the intrinsic hand muscles in the third decades. On neurological examinations, she showed weakness with atrophy in the distal muscles of the upper and lower limbs, mild impairment of deep sensation in the feet, and severe spastic gait with scissoring. Deep tendon reflexes were hypoactive...

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