muscular dystrophy-dystroglycanopathy type B5
Findings
No curated finding names muscular dystrophy-dystroglycanopathy type B5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
Definition from the Mondo Disease Ontology (MONDO:0011688), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
18 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 9 of 9 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 9 of 9 reported patients
- Proximal amyotrophyHPOHP:0007126
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 8 of 9 reported patients
- Shoulder girdle muscle weaknessHPOHP:0003547
- 11 of 19 reported patients
- Motor delayHPOHP:0001270
- 5 of 9 reported patients
- Feeding difficultiesHPO
Show the remaining 6
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 9 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 1 of 9 reported patients
- Difficulty climbing stairsHPOHP:0003551
- EMG: myopathic abnormalitiesHPOHP:0003458
- Gait disturbanceHPOHP:0001288
- Shoulder girdle muscle atrophyHPOHP:0003724
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.
- FKRPHGNC:17997
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: muscular dystrophy-dystroglycanopathy type B5
- Also called
- congenital muscular dystrophy-FKRP relatedMDC1CMDDGB5muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5