MCID: DST013
MIFTS: 14

Distal Myopathy with Vocal Cord Weakness

Categories: Rare diseases

Aliases & Classifications for Distal Myopathy with Vocal Cord Weakness

MalaCards integrated aliases for Distal Myopathy with Vocal Cord Weakness:

Name: Distal Myopathy with Vocal Cord Weakness 49 24
Myopathy, Distal 2 13 69
Distal Myopathy 2 49 24
Mpd2 49 24
Vocal Cord and Pharyngeal Weakness with Distal Myopathy 24
Distal Myopathy with Vocal Cord and Pharyngeal Signs 24
Myopathia Distalis Type 2 24
Matrin 3 Distal Myopathy 24
Myopathy, Distal, 2 49
Vcpdm 24

Classifications:



External Ids:

UMLS 69 C1853723

Summaries for Distal Myopathy with Vocal Cord Weakness

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 600Disease definitionDistal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.Visit the Orphanet disease page for more resources. Last updated: 1/1/2014

MalaCards based summary : Distal Myopathy with Vocal Cord Weakness, also known as myopathy, distal 2, is related to amyotrophic lateral sclerosis 21 and pharyngitis. The drugs Silicon and Micronutrients have been mentioned in the context of this disorder.

Genetics Home Reference : 24 Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles.

Related Diseases for Distal Myopathy with Vocal Cord Weakness

Diseases related to Distal Myopathy with Vocal Cord Weakness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 21 11.6
2 pharyngitis 10.2
3 myopathy 10.2

Symptoms & Phenotypes for Distal Myopathy with Vocal Cord Weakness

Drugs & Therapeutics for Distal Myopathy with Vocal Cord Weakness

Drugs for Distal Myopathy with Vocal Cord Weakness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational 7440-21-3 4082203
2 Micronutrients
3 Trace Elements
4 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Clinical and Subjective Performance of Three Different MPDS With Silicon Hydrogel Lenses Completed NCT01665612

Search NIH Clinical Center for Distal Myopathy with Vocal Cord Weakness

Genetic Tests for Distal Myopathy with Vocal Cord Weakness

Anatomical Context for Distal Myopathy with Vocal Cord Weakness

Publications for Distal Myopathy with Vocal Cord Weakness

Articles related to Distal Myopathy with Vocal Cord Weakness:

# Title Authors Year
1
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31. ( 10922394 )
2000

Variations for Distal Myopathy with Vocal Cord Weakness

Expression for Distal Myopathy with Vocal Cord Weakness

Search GEO for disease gene expression data for Distal Myopathy with Vocal Cord Weakness.

Pathways for Distal Myopathy with Vocal Cord Weakness

GO Terms for Distal Myopathy with Vocal Cord Weakness

Sources for Distal Myopathy with Vocal Cord Weakness

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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