Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype
Language English Country England, Great Britain Media print-electronic
Document type Case Reports, Journal Article
PubMed
19409784
DOI
10.1016/j.nmd.2009.03.005
PII: S0960-8966(09)00081-9
Knihovny.cz E-resources
- MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Electromyography MeSH
- Phenotype * MeSH
- Infant MeSH
- Humans MeSH
- Cranial Nerve Diseases etiology MeSH
- Neural Conduction MeSH
- Motor Neuron Disease complications diagnosis MeSH
- Disease Progression MeSH
- Family MeSH
- Age of Onset MeSH
- Check Tag
- Adult MeSH
- Infant MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
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.
References provided by Crossref.org
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
