MCID: MYP095
MIFTS: 19

Myopathy, Distal, 4

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myopathy, Distal, 4

MalaCards integrated aliases for Myopathy, Distal, 4:

Name: Myopathy, Distal, 4 53 71 28 13 69
Williams Distal Myopathy 53 71
Mpd4 53 71
Distal Myopathy with Posterior Leg and Anterior Hand Involvement 55
Distal Abd-Filaminopathy 55

Characteristics:

Orphanet epidemiological data:

55
distal myopathy with posterior leg and anterior hand involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
patients remain ambulatory
variable age at onset, mostly in third decade (range teenage years to fourth decade)
two families have been reported (as of 6/2011)


HPO:

31
myopathy, distal, 4:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 614065
Orphanet 55 ORPHA63273
ICD10 via Orphanet 33 G71.0
MedGen 39 C3279722
MeSH 41 D049310
UMLS 69 C3279722

Summaries for Myopathy, Distal, 4

OMIM : 53 Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by Duff et al., 2011). Mutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; 609524), which shows a different pattern of muscle involvement and different histologic changes. (614065)

MalaCards based summary : Myopathy, Distal, 4, is also known as williams distal myopathy, and has symptoms including muscle weakness, myopathy and cardiomyopathy. An important gene associated with Myopathy, Distal, 4 is FLNC (Filamin C).

UniProtKB/Swiss-Prot : 71 Myopathy, distal, 4: A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non- specific changes with no evidence of rods, necrosis, or inflammation.

Related Diseases for Myopathy, Distal, 4

Symptoms & Phenotypes for Myopathy, Distal, 4

Symptoms via clinical synopsis from OMIM:

53
MuscleSoftTissue:
calf muscle weakness
type 1 fiber predominance
muscle weakness, distal upper and lower limbs
muscle atrophy, distal upper and lower limbs
sparing of the anterior tibial compartment
more
CardiovascularHeart:
cardiomyopathy (in 2 of 4 patients from 1 family)

LaboratoryAbnormalities:
normal or mildly increased serum creatine kinase

NeurologicPeripheralNervousSystem:
hyporeflexia in the lower limbs


Clinical features from OMIM:

614065

Human phenotypes related to Myopathy, Distal, 4:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 myopathy 31 HP:0003198
3 cardiomyopathy 31 HP:0001638
4 hyporeflexia 31 HP:0001265
5 mildly elevated creatine phosphokinase 31 HP:0008180
6 distal lower limb amyotrophy 31 HP:0008944
7 distal upper limb amyotrophy 31 HP:0007149
8 abnormality of the calf musculature 31 HP:0001430

UMLS symptoms related to Myopathy, Distal, 4:


calf muscle weakness

Drugs & Therapeutics for Myopathy, Distal, 4

Search Clinical Trials , NIH Clinical Center for Myopathy, Distal, 4

Genetic Tests for Myopathy, Distal, 4

Genetic tests related to Myopathy, Distal, 4:

# Genetic test Affiliating Genes
1 Myopathy, Distal, 4 28 FLNC

Anatomical Context for Myopathy, Distal, 4

Publications for Myopathy, Distal, 4

Variations for Myopathy, Distal, 4

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Distal, 4:

71
# Symbol AA change Variation ID SNP ID
1 FLNC p.Ala193Thr VAR_066212 rs387906587
2 FLNC p.Met251Thr VAR_066213 rs387906586

ClinVar genetic disease variations for Myopathy, Distal, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNC NM_001458.4(FLNC): c.752T> C (p.Met251Thr) single nucleotide variant Pathogenic rs387906586 GRCh37 Chromosome 7, 128477504: 128477504
2 FLNC NM_001458.4(FLNC): c.577G> A (p.Ala193Thr) single nucleotide variant Pathogenic/Likely pathogenic rs387906587 GRCh37 Chromosome 7, 128475604: 128475604

Expression for Myopathy, Distal, 4

Search GEO for disease gene expression data for Myopathy, Distal, 4.

Pathways for Myopathy, Distal, 4

GO Terms for Myopathy, Distal, 4

Sources for Myopathy, Distal, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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