Distal hereditary motor neuropathy type 1

General Information (adopted from Orphanet):

Synonyms, Signs: SPINAL MUSCULAR ATROPHY, DISTAL, JUVENILE, AUTOSOMAL DOMINANT, I
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE I
CHARCOT-MARIE-TOOTH DISEASE, SPINAL, I
HMN I
HMN1
Autosomal dominant distal juvenile spinal muscular atrophy type 1
dhmn1
Number of Symptoms 15
OrphanetNr: 139518
OMIM Id: 182960
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant distal hereditary motor neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003487) Babinski sign 179 / 7739
2
(HPO:0001276) Hypertonia 317 / 7739
3
(HPO:0007267) Chronic axonal neuropathy 5 / 7739
4
(HPO:0006938) Impaired vibration sensation at ankles 3 / 7739
5
(HPO:0001761) Pes cavus 225 / 7739
6
(HPO:0001765) Hammertoe 63 / 7739
7
(HPO:0003693) Distal amyotrophy 118 / 7739
8
(HPO:0003484) Upper limb muscle weakness 19 / 7739
9
(HPO:0002460) Distal muscle weakness 122 / 7739
10
(OMIM) Distal limb muscle weakness and atrophy 1 / 7739
11
(HPO:0003676) Progressive disorder 148 / 7739
12
(OMIM) Decreased vibration sense in the feet 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Upper limb involvement may occur later 10 / 7739
15
(OMIM) Sural nerve biopsy shows chronic axonal neuropathy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. ...
Clinical Description OMIM Davis et al. (1978) reported autosomal dominant distal motor neuronopathy without sensory impairment. Motor nerve conduction velocities were normal. Onset was usually in the first decade.

Harding and Thomas (1980) reported 4 families with autosomal dominant ...