Distal myopathy with vocal cord weakness

General Information (adopted from Orphanet):

Synonyms, Signs: VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY
VCPDM
MPD2
Number of Symptoms 31
OrphanetNr: 600
OMIM Id: 606070
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant distal myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
2
 (HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
3
 (HPO:0001347) Hyperreflexia 363 / 7739
4
 (HPO:0000726) Dementia rare [HPO:skoehler] 131 / 7739
5
 (HPO:0002127) Abnormal upper motor neuron morphology 15 / 7739
6
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
7
 (HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
8
 (HPO:0002936) Distal sensory impairment rare [HPO:skoehler] 96 / 7739
9
 (HPO:0001260) Dysarthria 329 / 7739
10
 (HPO:0002015) Dysphagia 301 / 7739
11
 (HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
12
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
13
 (HPO:0002835) Aspiration 11 / 7739
14
 (HPO:0008756) Bowing of the vocal cords 2 / 7739
15
 (HPO:0001609) Hoarse voice 34 / 7739
16
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
17
 (HPO:0003805) Rimmed vacuoles 22 / 7739
18
 (HPO:0001283) Bulbar palsy 31 / 7739
19
 (HPO:0002460) Distal muscle weakness 122 / 7739
20
 (OMIM) Muscle biopsy shows noninflammatory myopathy with rimmed vacuoles and atrophic fibers 1 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Incomplete closure of the glottis 1 / 7739
23
 (OMIM) Hypophonic, breathy voice 1 / 7739
24
 (OMIM) Pharyngeal muscle weakness 2 / 7739
25
 (HPO:0003581) Adult onset 117 / 7739
26
 (HPO:0002483) Bulbar signs 9 / 7739
27
 (OMIM) Wet, gurgling, hoarse voice 1 / 7739
28
 (OMIM) EMG shows neuropathic or myopathic changes 1 / 7739
29
 (OMIM) Onset of weakness in hands and feet 1 / 7739
30
 (OMIM) Vocal cord weakness 1 / 7739
31
 (HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM - Differential Diagnosis

Feit et al. (1998) commented on the possible confusion of the MPD2 phenotype with the axonal (neuronal) form of Charcot-Marie-tooth disease, CMT2 (see CMT2A1; 118210), if EMG results show a neurogenic disorder with ...
Clinical Description OMIM Feit et al. (1998) described a large American family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscles. From ...
Molecular genetics OMIM In the family described by Feit et al. (1998) and in an unrelated Bulgarian family with vocal cord and pharyngeal weakness with distal myopathy, Senderek et al. (2009) identified the same heterozygous missense mutation in the MATR3 gene ...