congenital muscular dystrophy

Term ID

DOID:0050557

Synonyms

Definition

A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (2)

References

GARD:9138
ICD9CM:359.0
OMIM:254100
ORDO:97242
SNOMEDCT_US_2023_03_01:193221009
UMLS_CUI:C2937300

Ontology

Human Disease ( DOID:0050557 )

Relationships

is a type of: muscular dystrophy physical disorder

muscular dystrophy physical disorder Show first 5 Terms
has subtype: Bethlem myopathy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy due to LMNA mutation ... Show All 11 Terms

Bethlem myopathy congenital merosin-deficient muscular dystrophy 1A congenital muscular dystrophy 1B congenital muscular dystrophy due to integrin alpha-7 deficiency congenital muscular dystrophy due to LMNA mutation congenital muscular dystrophy with cataracts and intellectual disability megaconial type congenital muscular dystrophy muscular dystrophy-dystroglycanopathy rigid spine muscular dystrophy 1 Ullrich congenital muscular dystrophy Walker-Warburg syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations