title: Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype.
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.
authors.affiliation: DNA laboratory, Department of Child Neurology, Second School of Medicine, Charles University Prague, 15200 Prague 5, Czech Republic. jana.haberlova@gmail.com
authors.forename: J
authors.initials: J
authors.lastname: Haberlová
authors.forename: K G
authors.initials: KG
authors.lastname: Claeys
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: P
authors.initials: P
authors.lastname: Seeman
mesh_terms: D000328:Adult; D017668:Age of Onset; D003389:Cranial Nerve Diseases / Q000209:etiology*; D003937:Diagnosis, Differential; D018450:Disease Progression; D004576:Electromyography; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D016472:Motor Neuron Disease / Q000150:complications* / Q000175:diagnosis*; D009431:Neural Conduction; D010641:Phenotype