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 54 26
Myopathy, Distal 2 13 74
Distal Myopathy 2 54 26
Mpd2 54 26
Vocal Cord and Pharyngeal Weakness with Distal Myopathy 26
Distal Myopathy with Vocal Cord and Pharyngeal Signs 26
Myopathia Distalis Type 2 26
Matrin 3 Distal Myopathy 26
Myopathy, Distal, 2 54
Vcpdm 26

Classifications:



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UMLS 74 C1853723

Summaries for Distal Myopathy with Vocal Cord Weakness

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 600Disease definitionVocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.EpidemiologyWorldwide prevalence is unknown but more than 70 patients (of North American, European, and Japanese origin) have been reported to date.Clinical descriptionOnset of muscle weakness is between 30-63 years (mean in the forties) and may initially be asymmetric. It most frequently begins with involvement of ankle and toe extensors with foot drop or may manifest in the hands. Weakness in the ankles renders the gait very unstable resulting in a waddling and steppage gait. In the hands, the extensors of the fingers and the abductor pollicis brevis (with atrophy) are affected to varying degrees. Progression of muscle weakness and wasting to proximal upper and lower limb muscles is common. Bulbar involvement with dysphonia and dysphagia may be initially absent but appear as disease progresses. Initially, voice is usually nasal or hoarse and dysphagia mild (with difficulty swallowing solid food), but progressive vocal cord weakness eventually leads to aspiration. Some patients display respiratory impairment with a low vital capacity that may progress to respiratory failure. Ocular muscle involvement is not observed.EtiologyVCPDM is caused by a c.254C>G mutation in the MATR3 gene (5q31.3) which results in substitution of a conserved amino acid (S85C) in the nuclear protein Matrin-3. It harbors nuclear import and export motifs in addition to several DNA and RNA binding sites. Currently, the mechanism by which S85C alteration in Matrin-3 leads to myopathy remains largely unknown.Diagnostic methodsThe diagnosis of VCPDM is clinical and involves vocal cord examination by laryngoscopy (which reveals bowing of the vocal cords and constantly flowing secretions, resulting from incomplete closure of the glottis and pharyngeal muscle weakness). Needle EMG shows myopathic changes. Muscle biopsies reveal chronic non-inflammatory myopathy with variations in fiber size, fiber splitting and subsarcolemmal rimmed vacuoles, with pathologic changes being scant in the quadriceps and severe in the gastrocnemius. CK serum levels range from normal to an 8 fold increase. Molecular genetic screening revealing mutation in the MATR3 gene confirms diagnosis.Differential diagnosisDifferential diagnosis includes Welander distal myopathy, oculopharyngeal muscular dystrophy, and oculopharyngodistal myopathy.Genetic counselingVCPDM is inherited in an autosomal dominant manner. Genetic counseling can inform affected individuals about the 50% risk of disease transmission to their offspring.Management and treatmentCurrently, there is no cure for VCPDM. Ankle-foot orthotic braces and/or canes are used to aid in ambulation. For patients suffering from vocal cord weakness, injection of agents that add bulk and act as stiffeners (teflon, gel foam, fat), or bilateral silastic-implant medialization of the vocal folds, may aid in reducing aspiration. Ventilation or oxygen therapy may be needed if patient presents severe respiratory muscle involvement.PrognosisPrognosis of patients suffering from vocal cord and pharyngeal weakness is highly influenced by the quality of long-term respiratory care, if it is needed. Moreover, as distal upper limb muscles weaken, hand may partially curl closed, leading to a general loss of grip and dexterity. Ambulation is usually preserved.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 muscle disorders. The drugs Silicon and Micronutrients have been mentioned in the context of this disorder.

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 11.8
2 muscle disorders 10.3
3 miyoshi muscular dystrophy 10.1
4 myopathy 10.1
5 neuronopathy, distal hereditary motor, type viia 10.1
6 spinal muscular atrophy 10.1
7 muscular atrophy 10.1
8 distal hereditary motor neuropathies 10.1
9 distal hereditary motor neuropathy type 7 10.1

Graphical network of the top 20 diseases related to Distal Myopathy with Vocal Cord Weakness:



Diseases related to Distal Myopathy with Vocal Cord Weakness

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 Nutrients Not Applicable
4 Pharmaceutical Solutions Not Applicable
5 Trace Elements 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
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation. ( 25185957 )
2015
2
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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