Neuronopathy, distal hereditary motor, autosomal recessive 3

Preferred Label : Neuronopathy, distal hereditary motor, autosomal recessive 3;

Symbol : HMNR3;

CISMeF acronym : DHMN3; DHMN4; DSMA3; HMN3; HMN4;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : DHMN3; DHMN4; DSMA3; Neuropathy, distal hereditary motor, harding type iv; Neuropathy, distal hereditary motor, autosomal recessive 3; Hmn iv; Hmn III; HMN4; HMN3; Neuronopathy, distal hereditary motor, harding type iv; Spinal muscular atrophy, distal, autosomal recessive, 3; Neuronopathy, distal hereditary motor, harding type III;

Description : 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).;

Inheritance : Autosomal recessive;

Prefixed ID : %607088;

Details

Origin ID

607088;

UMLS CUI

C1846823;

Currated CISMeF NLP mapping
- Autosomal recessive distal spinal muscular atrophy type 3 (disorder) [SNOMED CT concept]
- Distal spinal muscular atrophy type 3 [ORDO Disease]
- distal spinal muscular atrophy type 3 [DO Concept]
- spinal muscular atrophy, distal, autosomal recessive, 3 [MeSH concept]
- spinal muscular atrophy, distal, autosomal recessive, 3 [MeSH Supplementary Concept]
DO Cross reference
- distal spinal muscular atrophy type 3 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diaphragmatic weakness [HPO term]
- Distal amyotrophy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- EMG: neuropathic changes [HPO term]
- Hyperlordosis [HPO term]
- Interosseus muscle atrophy [HPO term]
- Muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy [HPO term]
- Reduced vital capacity [HPO term]
- Slowly progressive [HPO term]
- Spinal muscular atrophy [HPO term]
ORDO concept(s)
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]
- Distal spinal muscular atrophy type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive distal spinal muscular atrophy type 3 (disorder) [SNOMED CT concept]
- Distal spinal muscular atrophy type 3 [ORDO Disease]
- distal spinal muscular atrophy type 3 [DO Concept]
- spinal muscular atrophy, distal, autosomal recessive, 3 [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, autosomal recessive, 3 [MeSH concept]

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