Distal hereditary motor neuronopathies

Distal hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor neuropathies, are a genetically and clinically heterogeneous group of

anterior horn of the spinal cord and subsequent muscle atrophy.^{[citation needed}

]

Although they can hardly be distinguished from

hereditary 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 of spinal muscular atrophies.^{[citation needed]}

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:^[1]^[2]

Type	OMIM	Gene	Locus	Inheritance	Common names and characteristics
DHMN1	182960	?	7q34–q36	Autosomal dominant	Autosomal dominant juvenile distal spinal muscular atrophy Juvenile onset
DHMN2A	158590	HSPB8	12q24.23	Autosomal dominant	Autosomal dominant distal spinal muscular atrophy Adult onset. Allelic with Charcot–Marie–Tooth disease type 2F
DHMN2B	608634	HSPB1	7q11.23	Autosomal dominant	Adult onset
DHMN2C	613376	HSPB3	5q11.2	Autosomal dominant
DHMN2D	615575	FBXO38	5q32	Autosomal dominant	Distal 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	?	11q13	Autosomal recessive	Distal spinal muscular atrophy type 3 DHMN3 – benign form: early adult onset, slowly progressive, no diaphragmatic paralysis DHMN4 – severe form: juvenile onset with diaphragmatic paralysis
DHMN5A	600794	GARS	7p14.3	Autosomal dominant	Distal spinal muscular atrophy type VA Upper limb predominance with spasticity of lower limbs Locus and phenotype overlapping with CMT-2D and SPG-17
DHMN5B	614751	REEP1	2p11.2	Autosomal dominant	Distal spinal muscular atrophy type VB Locus and phenotype overlapping with SPG-31
DHMN6	604320	IGHMBP2	11q13.3	Autosomal recessive	Distal spinal muscular atrophy type 1 (DSMA1); spinal muscular atrophy with respiratory distress type 1 (SMARD1) Infant onset, severe, with diaphragmatic failure
DHMN7A	158580	SLC5A7	2q12.3	Autosomal dominant	Spinal muscular atrophy with vocal cord paralysis; Harper–Young myopathy Infant onset with vocal cord paralysis
DHMN7B	607641	DCTN1	2p13.1	Autosomal dominant	Adult onset with vocal cord paralysis and facial weakness
DHMN8	600175	TRPV4	12q24.11	Autosomal dominant	Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare
DHMNJ	605726	SIGMAR1	9p13.3	Autosomal recessive	Distal spinal muscular atrophy type 2; Jerash type spinal muscular atrophy Juvenile onset with pyramidal features

Note: Acronym HMN is also used interchangeably with DHMN.

References

PMID 15358725
.

PMID 16769861
.

Mononeuropathy
Arm
median nerve

Carpal tunnel syndrome

Ape hand deformity

ulnar nerve

Ulnar nerve entrapment

Froment's sign

Ulnar tunnel syndrome

Ulnar claw

radial nerve

Radial neuropathy

Wrist drop

Cheiralgia paresthetica

long thoracic nerve

Winged scapula

Backpack palsy

Leg
lateral cutaneous nerve of thigh

Meralgia paraesthetica

tibial nerve

Tarsal tunnel syndrome

plantar nerve

Morton's neuroma

superior gluteal nerve

Trendelenburg's sign

sciatic nerve

Piriformis syndrome

Cranial nerves

See Template:Cranial nerve disease

Polyneuropathy and Polyradiculoneuropathy
HMSN

Charcot–Marie–Tooth disease

Dejerine–Sottas disease

Refsum's disease

Hereditary spastic paraplegia

Hereditary neuropathy with liability to pressure palsy

Familial amyloid neuropathy

Autoimmune and demyelinating disease

Guillain–Barré syndrome

Chronic inflammatory demyelinating polyneuropathy

Radiculopathy and plexopathy

Brachial plexus injury

Pectoralis minor syndrome

Thoracic outlet syndrome

Phantom limb

Other

Alcoholic polyneuropathy

Other
General

Complex regional pain syndrome

Mononeuritis multiplex

Nerve compression syndrome

Neuralgia

Peripheral neuropathy

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[1] PMID 15358725
.

[2] PMID 16769861
.

[1]

[2]

Classification

See also

References