autosomal recessive limb-girdle muscular dystrophy type 2K
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2K yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0012248), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
35 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 ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Hypoglycosylation of alpha-dystroglycanHPOHP:0030046
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- 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.
- POMT1HGNC:9202
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2K
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1LGMD-POMT1 relatedLGMD2Klimb-girdle muscular dystrophy-intellectual disability syndromeMDDGC1muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1POMT1 autosomal recessive limb-girdle muscular dystrophy