MCID: SPN355
MIFTS: 21

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Categories: Neuronal diseases, Rare diseases, Muscle diseases, Genetic diseases

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 57 73
Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive 57 13
Dsma3 57 59
Autosomal Recessive Distal Spinal Muscular Atrophy Type 3 59
Neuronopathy, Distal Hereditary Motor, Type Iii; Hmn3 57
Neuronopathy, Distal Hereditary Motor, Type Iv; Hmn4 57
Distal Hereditary Motor Neuropathy Type 3 and Type 4 59
Neuronopathy, Distal Hereditary Motor, Type Iii 57
Neuronopathy, Distal Hereditary Motor, Type Iv 57
Neuropathy, Distal Hereditary Motor, Type Iv 57
Distal Spinal Muscular Atrophy Type 3 59
Dhmn3 and Dhmn4 59
Hmn Iii 57
Hmn Iv 57
Dhmn4 57
Dhmn3 57
Hmn4 57
Hmn3 57

Characteristics:

Orphanet epidemiological data:

59
distal spinal muscular atrophy type 3
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
age of onset ranges from infancy to young adulthood (6 months-19 years)
slowly progressive


HPO:

32
spinal muscular atrophy, distal, autosomal recessive, 3:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607088
Orphanet 59 ORPHA139547
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 74 C1846823
MedGen 42 C1846823
UMLS 73 C1846823

Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

OMIM : 57 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 of distal SMA, see HMN1 (182960). Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006). (607088)

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3, also known as spinal muscular atrophy, chronic distal, autosomal recessive, is related to spinal muscular atrophy, distal, x-linked 3. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 is SMAR (Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive). Related phenotypes are reduced vital capacity and hyperlordosis

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Diseases in the Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 family:

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, x-linked 3 10.9

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
decreased respiratory vital capacity

Skeletal Spine:
hyperlordosis

Chest Diaphragm:
diaphragmatic paraparesis

Neurologic Central Nervous System:
muscle weakness, distal limbs, due to neuronopathy
early and severe foot extensor muscle involvement
muscle atrophy, distal
primarily affects distal lower limbs
secondary hand muscle weakness predominating at the wrist and finger extensor muscles
more

Clinical features from OMIM:

607088

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 reduced vital capacity 32 HP:0002792
2 hyperlordosis 32 HP:0003307
3 emg 32 HP:0003445
4 distal amyotrophy 32 HP:0003693
5 interosseus muscle atrophy 32 HP:0007181
6 spinal muscular atrophy 32 HP:0007269
7 distal lower limb muscle weakness 32 HP:0009053
8 diaphragmatic weakness 32 HP:0009113

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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