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 53 25
Myopathy, Distal 2 13 73
Distal Myopathy 2 53 25
Mpd2 53 25
Vocal Cord and Pharyngeal Weakness with Distal Myopathy 25
Distal Myopathy with Vocal Cord and Pharyngeal Signs 25
Myopathia Distalis Type 2 25
Matrin 3 Distal Myopathy 25
Myopathy, Distal, Type 2 40
Myopathy, Distal, 2 53
Vcpdm 25

Classifications:



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UMLS 73 C1853723

Summaries for Distal Myopathy with Vocal Cord Weakness

NIH Rare Diseases : 53 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.

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

Genetics Home Reference : 25 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 distal muscular dystrophy 10.2
3 pharyngitis 10.2
4 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 Not Applicable 7440-21-3 4082203
2 Micronutrients Not Applicable
3 Trace Elements Not Applicable
4 Pharmaceutical Solutions Not Applicable

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 Not Applicable

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
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). ( 16674563 )
2006

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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