muscular dystrophy, limb-girdle, autosomal recessive 23
MONDO:0029136Mondo
Findings
No curated finding names muscular dystrophy, limb-girdle, autosomal recessive 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Juvenile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
23 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.
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 6 of 6 reported patients
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Axonal degenerationHPOHP:0040078
- 1 of 1 reported patient
- Decreased nerve conduction velocityHPOHP:0000762
- 1 of 1 reported patient
- Difficulty runningHPOHP:0009046
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 6 of 6 reported patients
- Gowers signHPOHP:0003391
- 6 of 6 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Internally nucleated skeletal muscle fibersHPOHP:0031237
- 1 of 1 reported patient
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- Proximal lower limb muscle weaknessHPOHP:0008994
- 6 of 6 reported patients
Show the remaining 11
- Proximal upper limb muscle weaknessHPOHP:0008997
- 1 of 1 reported patient
- Sensorimotor neuropathyHPOHP:0007141
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 4 of 5 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- 3 of 5 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 3 of 6 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 5 reported patients
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.
- LAMA2HGNC:6482
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: muscular dystrophy, limb-girdle, autosomal recessive 23
- Also called
- laminin subunit alpha 2-related limb-girdle muscular dystrophy R23