Abstract
We describe two siblings affected by a motor and sensory neuropathy starting in childhood. Already in infancy, a spastic gait disturbance had become obvious, leading later to multiple surgical interventions. In adolescence, progressive loss of vision developed. At the time of our examination, both siblings showed severe weakness and atrophy of the distal muscles of legs and arms. Tendon jerks were brisk in proximal muscles; in the lower extremities, muscle tone was increased. Visual acuity was severely decreased. Nerve conduction studies revealed an axonal degeneration. This finding was confirmed by evaluation of a sural biopsy specimen in one patient, showing only few remaining myelinated fibres without signs of demyelination. This combination of hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy shows features of both hereditary motor and sensory neuropathy V and VI according to the classification of Dyck, indicating that these subtypes may not represent distinct entities.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 24 February 1997 Received in revised form: 30 May 1997 Accepted: 26 July 1997
Rights and permissions
About this article
Cite this article
Dillmann, U., Heide, G., Dietz, B. et al. Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family. J Neurol 244, 562–565 (1997). https://doi.org/10.1007/s004150050144
Issue Date:
DOI: https://doi.org/10.1007/s004150050144