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Distal hereditary motor neuronopathies

From Wikipedia, the free encyclopedia
Group of motor neuron diseases

Distal hereditary motor neuronopathies (distal HMNs,DHMNs, ordHMNs; sometimes also calleddistal hereditary motor neuropathies) are a genetically and clinically heterogeneous group ofmotor neuron diseases that result from geneticmutations in variousgenes and are characterized by degeneration and loss ofmotor neuron cells in theanterior horn of the spinal cord and subsequent muscleatrophy.[citation needed]

Although they can hardly be distinguished fromhereditary motor and sensory neuropathies on the clinical level, dHMNs are considered a separate class of disorders.[citation needed]

Another common system of classification groups many of DHMNs under the heading ofspinal muscular atrophies.[citation needed]

Classification

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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:[1][2]

TypeOMIMGeneLocusInheritanceCommon names and characteristics
DHMN1182960?7q34–q36Autosomal dominantAutosomal dominant juvenile distal spinal muscular atrophy
Juvenile onset
DHMN2A158590HSPB812q24.23Autosomal dominantAutosomal dominant distal spinal muscular atrophy
Adult onset. Allelic withCharcot–Marie–Tooth disease type 2F
DHMN2B608634HSPB17q11.23Autosomal dominantAdult onset
DHMN2C613376HSPB35q11.2Autosomal dominant
DHMN2D615575FBXO385q32Autosomal dominantDistal spinal muscular atrophy with calf predominance
Juvenile or adult onset, slowly progressive, affects both proximal and distal muscles, initially manifests with calf weakness which progresses to hands
DHMN3
DHMN4
607088?11q13Autosomal recessiveDistal spinal muscular atrophy type 3
DHMN3 – benign form: early adult onset, slowly progressive, no diaphragmatic paralysis
DHMN4 – severe form: juvenile onset withdiaphragmatic paralysis
DHMN5A600794GARS7p14.3Autosomal dominantDistal spinal muscular atrophy type VA
Upper limb predominance with spasticity of lower limbs
Locus and phenotype overlapping withCMT-2D andSPG-17
DHMN5B614751REEP12p11.2Autosomal dominantDistal spinal muscular atrophy type VB
Locus and phenotype overlapping withSPG-31
DHMN6604320IGHMBP211q13.3Autosomal recessiveDistal spinal muscular atrophy type 1 (DSMA1); spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Infant onset, severe, with diaphragmatic failure
DHMN7A158580SLC5A72q12.3Autosomal dominantSpinal muscular atrophy with vocal cord paralysis; Harper–Young myopathy
Infant onset with vocal cord paralysis
DHMN7B607641DCTN12p13.1Autosomal dominantAdult onset with vocal cord paralysis and facial weakness
DHMN8600175TRPV412q24.11Autosomal dominantCongenital distal spinal muscular atrophy
Affects primarily distal muscles of lower limbs, non-progressive, rare
DHMNJ605726SIGMAR19p13.3Autosomal recessiveDistal spinal muscular atrophy type 2; Jerash type spinal muscular atrophy
Juvenile onset with pyramidal features

Note: AcronymHMN is also used interchangeably withDHMN.

See also

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References

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  1. ^Irobi, J; De Jonghe, P; Timmerman, V (2004)."Molecular genetics of distal hereditary motor neuropathies".Human Molecular Genetics.13 (suppl 2):R195 –R202.doi:10.1093/hmg/ddh226.PMID 15358725.
  2. ^Scherer, SS (2006)."Finding the causes of inherited neuropathies".Archives of Neurology.63 (6):812–6.doi:10.1001/archneur.63.6.812.PMID 16769861.
Diseases relating to theperipheral nervous system
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