Title
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy: a new distal hereditary motor neuropathy phenotype Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy: a new distal hereditary motor neuropathy phenotype
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Subject
Human medicine
Source (journal)
Neuromuscular disorders
Volume/pages
19(2009) :6 , p. 427-428
ISSN
0960-8966
ISI
000268305200009
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Distal hereditary motor neuropathy is a heterogeneous group of disorders characterised by a pure motor axonal neuropathy. It is occasionally associated with additional signs such as facial weakness, vocal cord paralysis, weakness of the diaphragm, and pyramidal signs. Although predominantly the inheritance is autosomal dominant, all types of inheritance have been described. Here we report a Czech family with cranial nerves palsy as an initial feature of a non progressive infantile onset dominant distal hereditary motor neuropathy. This family may represent a new subtype of distal hereditary motor neuropathy.
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