muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009678), read 2026-09-29. CC BY 4.0.
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypoglycosylation of alpha-dystroglycanHPOHP:0030046
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Type II lissencephalyHPOHP:0007260
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FKTNHGNC:3622
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
- Also called
- FCMDFukuyama congenital muscular dystrophyFukuyama Type Congenital Muscular DystrophyMDDGA4muscle-eye-brain-FKTN relatedmuscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related