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Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
Author(s) -
Dubourg Odile,
Barhoumi Choukri,
Azzedine Hamid,
Birouk Nazha,
Brice Alexis,
Bouche Pierre,
Leguern Eric
Publication year - 2000
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/1097-4598(200010)23:10<1508::aid-mus6>3.0.co;2-d
Subject(s) - weakness , asymptomatic , medicine , pes cavus , sensory system , sensory loss , neurological examination , pathology , biology , neuroscience , anatomy , surgery , complication
We report the clinical and electrophysiological features of six members of a French family with a dominantly inherited motor and sensory neuropathy. Mean age at onset was 33.6 ± 9.1 years. Mean age at examination was 55.5 ± 13.3 years. Clinical presentation combined symptoms of hereditary sensory and autonomic neuropathy type I (HSAN‐I) with prominent distal muscle weakness. Five male patients presented with sensory symptoms involving the distal part of the limbs, especially the legs. All but one had histories of trophic alterations, consisting of poorly healing foot ulcers. Muscle weakness and wasting were always present, often severe, and mainly affected dorsiflexion of the toes and feet. One obligate female carrier aged 65 was clinically asymptomatic. Electrophysiological findings were consistent with a distal axonal motor and sensory neuropathy. Results of linkage analysis excluded the Charcot‐Marie‐Tooth 2A (CMT2A) and CMT2B loci and suggested the possibility of a linkage to HSAN‐I locus on 9q22.1–q22.3. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1508–1514, 2000.