Neuronopathy, distal hereditary motor, autosomal dominant 6

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 6;

Symbol : HMND6;

CISMeF acronym : DHMN2D; HMN2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuronopathy, distal hereditary motor, harding type iid; Spinal muscular atrophy, distal, autosomal dominant, calf-predominant; DHMN2D; Hmn iid; Neuropathy, distal hereditary motor, harding type iid; HMN2D;

Description : Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1; 182960).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the F-box only protein 38 gene (FBXO38, 608533.0001);

Prefixed ID : #615575;

Details

Origin ID

615575;

UMLS CUI

C3888271;

Automatic exact mappings (from CISMeF team)
- FBXO38 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- distal hereditary motor neuronopathy type 2D [DO Concept]
DO Cross reference
- distal hereditary motor neuronopathy type 2D [DO Concept]
Genes related to phenotype
- F-box only protein 38 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased Achilles reflex [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Difficulty running [HPO term]
- Difficulty walking [HPO term]
- EMG: chronic denervation signs [HPO term]
- Fasciculations [HPO term]
- Lower limb amyotrophy [HPO term]
- Lower limb muscle weakness [HPO term]
- Muscle spasm [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Spinal muscular atrophy [HPO term]
- Triceps weakness [HPO term]
- Variable expressivity [HPO term]
- Weakness of the intrinsic hand muscles [HPO term]
ORDO concept(s)
- Distal hereditary motor neuropathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Distal hereditary motor neuropathy type 2 [ORDO Disease]

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