Case Reports
Hereditary motor and sensory neuropathy type II followed in the next two generations by a clinically distal motor neuropathy
Affiliations
- PMID: 2642140
Item in Clipboard
Case Reports
Hereditary motor and sensory neuropathy type II followed in the next two generations by a clinically distal motor neuropathy
Clin Exp Neurol.
1989.
Abstract
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.
Similar articles
-
[Distal hereditary motor neuropathy type II with mutation in heat shock protein 27 gene. A case report].Rinsho Shinkeigaku. 2007 Jan;47(1):50-2. Rinsho Shinkeigaku. 2007. PMID: 17491338 Japanese.
-
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family.Pflugers Arch. 2000;439(3 Suppl):R208-10. Pflugers Arch. 2000. PMID: 10653194
-
[A family of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V)].Rinsho Shinkeigaku. 1989 Oct;29(10):1272-7. Rinsho Shinkeigaku. 1989. PMID: 2691166 Review. Japanese.
-
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy.Neurology. 2005 Nov 22;65(10):1538-43. doi: 10.1212/01.wnl.0000184490.22527.90. Neurology. 2005. PMID: 16301479
-
[Hereditary motor and sensory neuropathy type III. Case report and review of the literature].Klin Padiatr. 1995 Jan-Feb;207(1):24-7. doi: 10.1055/s-2008-1046504. Klin Padiatr. 1995. PMID: 7885014 Review. German.