Distal myopathy with anterior tibial onset

General Information (adopted from Orphanet):

Synonyms, Signs: DMAT
Distal anterior compartment myopathy
Number of Symptoms 10
OrphanetNr: 178400
OMIM Id: 606768
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive distal myopathy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of dysferlin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
2
 (HPO:0003693) Distal amyotrophy 118 / 7739
3
 (HPO:0002460) Distal muscle weakness 122 / 7739
4
 (OMIM) Cranial muscles spared 1 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Anterior tibial muscles first involved 1 / 7739
7
 (HPO:0003678) Rapidly progressive 33 / 7739
8
 (OMIM) Involves upper and lower proximal muscles 1 / 7739
9
 (OMIM) Biopsy shows myopathy without vacuoles 1 / 7739
10
 (OMIM) Serum creatine kinase 20-70 times normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Liu et al. (1998) and Illa et al. (2001) described a novel form of autosomal recessive distal myopathy in a consanguineous Spanish family. Onset of the disorder is between 14 and 28 years of age and the anterior ...
Molecular genetics OMIM In a Spanish family with distal myopathy with anterior tibial onset, Liu et al. (1998) identified a 5966delG mutation in the DYSF gene (603009.0002). This mutation yields an absence of dysferlin on the sarcolemma of muscle fibers in ...