HMNMYO
MCID: NRP070
MIFTS: 14

Neuropathy, Hereditary Motor, with Myopathic Features (HMNMYO)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neuropathy, Hereditary Motor, with Myopathic Features

MalaCards integrated aliases for Neuropathy, Hereditary Motor, with Myopathic Features:

Name: Neuropathy, Hereditary Motor, with Myopathic Features 57 6
Hmnmyo 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
variable age at onset (range first to fifth decade)


Classifications:



External Ids:

OMIM® 57 619216

Summaries for Neuropathy, Hereditary Motor, with Myopathic Features

OMIM® : 57 Hereditary motor neuropathy with myopathic features (HMNMYO) is an autosomal recessive disorder with both myopathic and neurogenic features. Affected individuals usually present in the first decade with lower leg weakness resulting in difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows some phenotypic overlap with distal hereditary motor neuropathy (see, e.g., 182960), but is distinguished by the presence of myopathic features (summary by Deschauer et al., 2021 and Pagnamenta et al., 2021). (619216) (Updated 05-Apr-2021)

MalaCards based summary : Neuropathy, Hereditary Motor, with Myopathic Features, is also known as hmnmyo. An important gene associated with Neuropathy, Hereditary Motor, with Myopathic Features is VWA1 (Von Willebrand Factor A Domain Containing 1).

Related Diseases for Neuropathy, Hereditary Motor, with Myopathic Features

Symptoms & Phenotypes for Neuropathy, Hereditary Motor, with Myopathic Features

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
lumbar hyperlordosis

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Neurologic Peripheral Nervous System:
hyporeflexia
axonal motor neuropathy
nerve conduction studies show diminished motor amplitudes
normal sensory potentials

Neurologic Central Nervous System:
foot drop
gait abnormalities
delayed walking, mild (in some patients)
forward posture

Laboratory Abnormalities:
increased serum creatine kinase (in some patients)

Muscle Soft Tissue:
myopathy
myalgia
difficulty climbing stairs
fibrosis
upper limb weakness
more
Skeletal Feet:
pes cavus
foot deformities
tight achilles tendon
pes equinovarus

Skeletal Pelvis:
hip flexion contractures

Skeletal Limbs:
flexion contractures

Clinical features from OMIM®:

619216 (Updated 05-Apr-2021)

Drugs & Therapeutics for Neuropathy, Hereditary Motor, with Myopathic Features

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Motor, with Myopathic Features

Genetic Tests for Neuropathy, Hereditary Motor, with Myopathic Features

Anatomical Context for Neuropathy, Hereditary Motor, with Myopathic Features

Publications for Neuropathy, Hereditary Motor, with Myopathic Features

Articles related to Neuropathy, Hereditary Motor, with Myopathic Features:

# Title Authors PMID Year
1
Bi-allelic truncating mutations in VWA1 cause neuromyopathy. 6 57
33459760 2021
2
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. 57 6
33559681 2021

Variations for Neuropathy, Hereditary Motor, with Myopathic Features

ClinVar genetic disease variations for Neuropathy, Hereditary Motor, with Myopathic Features:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VWA1 NM_022834.5(VWA1):c.52_61GCGCGGAGCG[3] (p.Gly25fs) Microsatellite Pathogenic 830327 GRCh37: 1:1371178-1371179
GRCh38: 1:1435798-1435799
2 VWA1 NM_022834.5(VWA1):c.94C>T (p.Arg32Ter) SNV Pathogenic 830326 GRCh37: 1:1372327-1372327
GRCh38: 1:1436947-1436947
3 VWA1 NM_022834.5(VWA1):c.879del (p.Arg293fs) Deletion Pathogenic 830328 GRCh37: 1:1374707-1374707
GRCh38: 1:1439327-1439327
4 VWA1 NM_022834.5(VWA1):c.52_61GCGCGGAGCG[1] (p.Gly21fs) Microsatellite Pathogenic 830324 GRCh37: 1:1371179-1371188
GRCh38: 1:1435799-1435808
5 VWA1 NM_022834.5(VWA1):c.252del (p.Glu85fs) Deletion Pathogenic 830325 GRCh37: 1:1372484-1372484
GRCh38: 1:1437104-1437104

Expression for Neuropathy, Hereditary Motor, with Myopathic Features

Search GEO for disease gene expression data for Neuropathy, Hereditary Motor, with Myopathic Features.

Pathways for Neuropathy, Hereditary Motor, with Myopathic Features

GO Terms for Neuropathy, Hereditary Motor, with Myopathic Features

Sources for Neuropathy, Hereditary Motor, with Myopathic Features

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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