Congenital merosin-deficient muscular dystrophy 1A

Congenital merosin-deficient muscular dystrophy 1A

Definition

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

Also known as CMD1A, congenital merosin-deficient muscular dystrophy type 1A, congenital muscular dystrophy caused by mutation in LAMA2, congenital muscular dystrophy due to laminin alpha2 deficiency, LAMA2 congenital muscular dystrophy, MDC1A, merosin-deficient congenital muscular dystrophy type 1A, merosin-negative congenital muscular dystrophy, muscular dystrophy, congenital merosin-deficient, type 1A, muscular dystrophy, congenital, merosin deficient or partially deficient — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Musculature Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculature Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0