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Distal hereditary motor neuronopathies

Group of motor neuron diseases

Summary

Group of motor neuron diseases

Distal hereditary motor neuronopathies (distal HMNs, DHMNs, or dHMNs; sometimes also called distal hereditary motor neuropathies) are a genetically and clinically heterogeneous group of motor neuron diseases that result from genetic mutations in various genes and are characterized by degeneration and loss of motor neuron cells in the anterior horn of the spinal cord and subsequent muscle atrophy.

Although they can hardly be distinguished from hereditary motor and sensory neuropathies on the clinical level, dHMNs are considered a separate class of disorders.

Another common system of classification groups many of DHMNs under the heading of spinal muscular atrophies. TOC

Classification

In 1993, A. E. Hardnig proposed to classify hereditary motor neuropathies into seven groups based on age at onset, mode of inheritance, and presence of additional features. This initial classification has since been widely adopted and expanded and currently looks as follows:

Type	OMIM	Gene	Locus	Inheritance	Common names and characteristics
DHMN1	{{OMIM	182960	none}}	?	7q34–q36	Autosomal dominant
DHMN2A	{{OMIM	158590	none}}	HSPB8	12q24.23	Autosomal dominant
DHMN2B	{{OMIM	608634	none}}	HSPB1	7q11.23	Autosomal dominant
DHMN2C	{{OMIM	613376	none}}	HSPB3	5q11.2	Autosomal dominant
DHMN2D	{{OMIM	615575	none}}	FBXO38	5q32	Autosomal dominant
**DHMN3
DHMN4**	{{OMIM	607088	none}}	?	11q13	Autosomal recessive
DHMN5A	{{OMIM	600794	none}}	GARS	7p14.3	Autosomal dominant
DHMN5B	{{OMIM	614751	none}}	REEP1	2p11.2	Autosomal dominant
DHMN6	{{OMIM	604320	none}}	IGHMBP2	11q13.3	Autosomal recessive
DHMN7A	{{OMIM	158580	none}}	SLC5A7	2q12.3	Autosomal dominant
DHMN7B	{{OMIM	607641	none}}	DCTN1	2p13.1	Autosomal dominant
DHMN8	{{OMIM	600175	none}}	TRPV4	12q24.11	Autosomal dominant
DHMNJ	{{OMIM	605726	none}}	SIGMAR1	9p13.3	Autosomal recessive

Note: Acronym HMN is also used interchangeably with DHMN.

References

(2004). "Molecular genetics of distal hereditary motor neuropathies". Human Molecular Genetics.
(2006). "Finding the causes of inherited neuropathies". Archives of Neurology.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

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