Distal Myopathy with Vocal Cord Weakness (MPD2)

Categories: Muscle diseases, 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 52 25
Distal Myopathy 2 52 25
Mpd2 52 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, 2 52
Myopathy, Distal 2 71
Vcpdm 25


External Ids:

UMLS 71 C1853723

Summaries for Distal Myopathy with Vocal Cord Weakness

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 600 Definition Vocal 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. Epidemiology Worldwide prevalence is unknown but more than 70 patients (of North American, European, and Japanese origin) have been reported to date. Clinical description Onset 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. Etiology VCPDM 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 methods The 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 diagnosis Differential diagnosis includes Welander distal myopathy, oculopharyngeal muscular dystrophy, and oculopharyngodistal myopathy. Genetic counseling VCPDM 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 treatment Currently, 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. Prognosis Prognosis 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 distal myopathy 2, is related to amyotrophic lateral sclerosis 21 and miyoshi muscular dystrophy.

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. Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult. Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).

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 11.9
2 miyoshi muscular dystrophy 10.2
3 myopathy 10.2
4 distal hereditary motor neuronopathy type 7 10.2
5 spinal muscular atrophy 10.2
6 muscular atrophy 10.2
7 charcot-marie-tooth hereditary neuropathy 10.2
8 distal hereditary motor neuropathy type 7 10.2
9 cataract 9.8

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

Search Clinical Trials , 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:

(show all 12)
# Title Authors PMID Year
Expanding proteome coverage with orthogonal-specificity α-lytic proteases. 61
24425750 2014
Crystal structure of silkworm Bombyx mori JHBP in complex with 2-methyl-2,4-pentanediol: plasticity of JH-binding pocket and ligand-induced conformational change of the second cavity in JHBP. 61
23437107 2013
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). 61
16674563 2006
Interactions among yeast protein-disulfide isomerase proteins and endoplasmic reticulum chaperone proteins influence their activities. 61
16002399 2005
The fission yeast ptr1+ gene involved in nuclear mRNA export encodes a putative ubiquitin ligase. 61
15094387 2004
Gene regulation in response to protein disulphide isomerase deficiency. 61
12734802 2003
Hut1 proteins identified in Saccharomyces cerevisiae and Schizosaccharomyces pombe are functional homologues involved in the protein-folding process at the endoplasmic reticulum. 61
11284010 2001
Functional differences in yeast protein disulfide isomerases. 61
11157982 2001
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31. 61
10922394 2000
A new genetic method for isolating functionally interacting genes: high plo1(+)-dependent mutants and their suppressors define genes in mitotic and septation pathways in fission yeast. 61
10924454 2000
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. 61
9837826 1998
Overproduction of Mpd2p suppresses the lethality of protein disulfide isomerase depletion in a CXXC sequence dependent manner. 61
9367834 1997

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....