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Distal hereditary motor neuropathies

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Distal hereditary motor neuropathies (distal HMN, dHMN) 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.

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

Classification Edit

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]

HMN type
Common/alternate names
OMIM Gene Locus Inheritance Characteristics
HMN1 182960  ?  ? Autosomal dominant Juvenile-onset
HMN2A
Autosomal dominant distal spinal muscular atrophy
158590 HSPB8 12q24.23 Autosomal dominant Adult-onset. Allelic with Charcot–Marie–Tooth disease type 2F
HMN2B 608634 HSPB1 7q11.23 Autosomal dominant Adult-onset
HMN2C 613376 HSPB3 5q11.2 Autosomal dominant
HMN3, HMN4
Distal spinal muscular atrophy type 3
607088  ? 11q13 Autosomal recessive HMN3 – benign form: early adult onset, slowly progressive, no diaphragmatic paralysis
HMN4 – severe form: juvenile-onset with diaphragmatic paralysis
HMN5A
Distal spinal muscular atrophy type 5A
600794 GARS 7p14.3 Autosomal dominant Upper limb predominance with spasticity of lower limbs
Locus and phenotype overlapping with CMT-2D and SPG-17
HMN5B
Distal spinal muscular atrophy type 5B
614751 REEP1 2p11.2 Autosomal dominant Locus and phenotype overlapping with SPG-31
HMN6
Distal spinal muscular atrophy type 1
Spinal muscular atrophy with respiratory distress type 1
604320 IGHMBP2 11q13.2–q13.4 Autosomal recessive Infant-onset, severe, with diaphragmatic failure
HMN7A
Spinal muscular atrophy with vocal cord paralysis
Harper–Young myopathy
158580  ? 2q14.2 Autosomal dominant Adult-onset with vocal cord paralysis
HMN7B 607641 DCTN1 2p13.1 Autosomal dominant Adult-onset with vocal cord paralysis and facial weakness
HMN-J
Distal spinal muscular atrophy type 2
Jerash type spinal muscular atrophy
605726 HMNJ 9p21.1–p12 Autosomal recessive Juvenile-onset with pyramidal features

See also Edit

References Edit

  1. DOI:10.1093/hmg/ddh226
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  2. DOI:10.1001/archneur.63.6.812
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