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Individual differences |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |
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.
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:
| HMN type|
|HMN2A||158590||HSPB8||12q24.23||Autosomal dominant||Adult-onset. Allelic with Charcot–Marie–Tooth disease type 2F|
|HMN3, HMN4||607088||?||11q13||Autosomal recessive|| HMN3 – benign form: early adult onset, slowly progressive, no diaphragmatic paralysis|
HMN4 – severe form: juvenile-onset with diaphragmatic paralysis
|HMN5A||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||614751||REEP1||2p11.2||Autosomal dominant||Locus and phenotype overlapping with SPG-31|
||604320||IGHMBP2||11q13.2–q13.4||Autosomal recessive||Infant-onset, severe, with diaphragmatic failure|
||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|
||605726||HMNJ||9p21.1–p12||Autosomal recessive||Juvenile-onset with pyramidal features|
See also Edit
- Charcot–Marie–Tooth disease
- Hereditary motor and sensory neuropathies
- Hereditary spastic paraplegia
- Motor neuron disease
- Spinal muscular atrophies
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