Distal spinal muscular atrophy type 3

General Information (adopted from Orphanet):

Synonyms, Signs: HMN III
HMN IV
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IV
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IV
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE III
HMN4
HMN3
DHMN3
DHMN4
Autosomal recessive distal spinal muscular atrophy type 3
Distal hereditary motor neuropathy type 3 and type 4
dsma3
dHMN3 and dHMN4
Number of Symptoms 18
OrphanetNr: 139547
OMIM Id: 607088
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0003307) Hyperlordosis 122 / 7739
2
 (HPO:0009113) Diaphragmatic weakness 12 / 7739
3
 (HPO:0002792) Reduced vital capacity 17 / 7739
4
 (HPO:0003693) Distal amyotrophy 118 / 7739
5
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
6
 (HPO:0002460) Distal muscle weakness 122 / 7739
7
 (HPO:0009053) Distal lower limb muscle weakness 13 / 7739
8
 (HPO:0007181) Interosseus muscle atrophy 3 / 7739
9
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
10
 (OMIM) Decreased respiratory vital capacity 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) EMG shows neurogenic abnormalities 8 / 7739
13
 (OMIM) Secondary hand muscle weakness predominating at the wrist and finger extensor muscles 1 / 7739
14
 (OMIM) Late diaphragmatic involvement 1 / 7739
15
 (OMIM) Early and severe foot extensor muscle involvement 1 / 7739
16
 (HPO:0003677) Slow progression 134 / 7739
17
 (OMIM) Secondary involvement of proximal and trunk muscles 1 / 7739
18
 (OMIM) Primarily affects distal lower limbs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a general phenotypic description and a discussion of genetic heterogeneity ...
Clinical Description OMIM Pearn and Hudgson (1979) reported 12 patients from 8 kindreds with autosomal recessive distal spinal muscular atrophy. They estimated that DSMA accounted for about 10% of all patients with SMA in a population in northeast England. Clinically, the ...