MYOPATHY, DISTAL, 3

General Information (adopted from Orphanet):

Synonyms, Signs: MPD3
Number of Symptoms 25
OrphanetNr:
OMIM Id: 610099
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003376) Steppage gait 41 / 7739
2
 (HPO:0002312) Clumsiness 28 / 7739
3
 (HPO:0001760) Abnormality of the foot 96 / 7739
4
 (HPO:0009473) Joint contracture of the hand 84 / 7739
5
 (HPO:0001171) Split hand 72 / 7739
6
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
7
 (HPO:0002460) Distal muscle weakness 122 / 7739
8
 (HPO:0003805) Rimmed vacuoles 22 / 7739
9
 (HPO:0003694) Late-onset proximal muscle weakness 3 / 7739
10
 (HPO:0003693) Distal amyotrophy 118 / 7739
11
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
12
 (HPO:0003560) Muscular dystrophy 88 / 7739
13
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
14
 (OMIM) Proximal muscle weakness occurs later 3 / 7739
15
 (OMIM) Atrophy of intrinsic foot muscles 1 / 7739
16
 (OMIM) Contractures of the hands, mild 1 / 7739
17
 (HPO:0003677) Slow progression 134 / 7739
18
 (OMIM) Asymmetric muscle involvement 2 / 7739
19
 (OMIM) Muscle biopsy shows rimmed vacuoles 1 / 7739
20
 (OMIM) Atrophy of thenar muscles 1 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Distal muscle weakness, upper and lower limbs 4 / 7739
23
 (OMIM) Normal or mildly increased serum creatine kinase 6 / 7739
24
 (OMIM) Atrophy of intrinsic hand muscles 1 / 7739
25
 (OMIM) MRI shows fatty infiltration of affected muscles 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mahjneh et al. (2003) reported a large Finnish family in which 7 individuals spanning 4 generations developed slowly progressive adult-onset distal myopathy. Inheritance was autosomal dominant. Age at onset ranged from 32 to 45 years with clumsiness in ...