Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Definition
Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
Also known as FCMD, Fukuyama congenital muscular dystrophy, Fukuyama Type Congenital Muscular Dystrophy, MDDGA4, muscle-eye-brain-FKTN related, muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related — per MONDO
Also identified as
- DOID 0050559 per MONDO
- NCIT C126741 per MONDO
- OMIM 253800 per MONDO
- Orphanet 272 per MONDO
- SCTID 111502003 per MONDO
- UMLS C0410174 per MONDO
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 |