Facioscapulohumeral muscular dystrophy 1

Facioscapulohumeral muscular dystrophy 1

Definition

Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.

Also known as facioscapulohumeral muscular dystrophy 1, facioscapulohumeral muscular dystrophy 1A, facioscapulohumeral muscular dystrophy type 1, FSHD, FSHD1, FSHD1A, Landouzy-Dejerine muscular dystrophy, muscular dystrophy, facioscapulohumeral, type 1A — 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