VACUOLAR NEUROMYOPATHY

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES
MDRV
Number of Symptoms 23
OrphanetNr:
OMIM Id: 601846
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003722) Neck flexor weakness 13 / 7739
2
(HPO:0001618) Dysphonia 28 / 7739
3
(HPO:0002015) Dysphagia 301 / 7739
4
(HPO:0001761) Pes cavus 225 / 7739
5
(HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
6
(HPO:0009027) Foot dorsiflexor weakness 45 / 7739
7
(HPO:0003691) Scapular winging 51 / 7739
8
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
9
(HPO:0003560) Muscular dystrophy 88 / 7739
10
(HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
11
(HPO:0003555) Muscle fiber splitting 11 / 7739
12
(HPO:0003805) Rimmed vacuoles 22 / 7739
13
(HPO:0002460) Distal muscle weakness 122 / 7739
14
(OMIM) EMG shows myotonic changes 1 / 7739
15
(OMIM) Variable fiber size 1 / 7739
16
(HPO:0003581) Adult onset 117 / 7739
17
(OMIM) Finger and wrist extensor weakness 1 / 7739
18
(OMIM) Rimmed vacuoles with basophilic granular material 1 / 7739
19
(HPO:0003828) Variable expressivity 130 / 7739
20
(OMIM) Dysphagia due to muscle weakness 1 / 7739
21
(OMIM) Angulated atrophic fibers 2 / 7739
22
(OMIM) Dysphonia due to muscle weakness 1 / 7739
23
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Servidei et al. (1999) studied a large Italian family in which 10 individuals over 3 generations were affected by a progressive neuromyopathy. The disease was characterized by onset from the late teens to early fifties with distal leg ...