MYOPATHY, DISTAL, TATEYAMA TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: MPDT
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614321
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:0000467) Neck muscle weakness rare [HPO:skoehler] 29 / 7739
2
(HPO:0001761) Pes cavus 225 / 7739
3
(HPO:0008981) Calf muscle hypertrophy 28 / 7739
4
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
5
(OMIM) Muscle weakness, distal, particularly affecting the hands 1 / 7739
6
(OMIM) Internal nuclei 9 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Absence of caveolin-3 staining 1 / 7739
9
(OMIM) Muscle atrophy, distal, particularly affecting the hands Muscle biopsy shows variation in fiber size 1 / 7739
10
(OMIM) Palpitations, benign (1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tateyama et al. (2002) reported a 25-year-old Japanese woman with muscle atrophy and weakness limited to the small muscles of the hands and feet. She first presented at age 12 years with heart palpitations, which reflected infrequent premature ...
Molecular genetics OMIM In a Japanese woman with a relatively mild nonspecific sporadic distal myopathy, Tateyama et al. (2002) identified a heterozygous mutation in the CAV3 gene (R26Q; 601253.0007).

In a mother and daughter with distal myopathy, Fulizio et ...