congenital merosin-deficient muscular dystrophy 1A
Findings
No curated finding names congenital merosin-deficient muscular dystrophy 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.
Definition from the Mondo Disease Ontology (MONDO:0011925), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
55 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
- HypotoniaHPOHP:0001252
- 9 of 9 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Absent muscle fiber merosinHPOHP:0030091
Show the remaining 43
- Muscular dystrophyHPOHP:0003560
- Very frequent (80% to 99% of cases)
- MyositisHPOHP:0100614
- Very frequent (80% to 99% of cases)
- Respiratory failureHPOHP:0002878
- Very frequent (80% to 99% of cases)
- Weak cryHPOHP:0001612
- Very frequent (80% to 99% of cases)
- Abnormal brainstem MRI signal intensityHPOHP:0012747
- Frequent (30% to 79% of cases)
- Abnormality of the temporomandibular jointHPOHP:0010754
- 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.
- LAMA2HGNC:6482
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
10 names
Resolves to: congenital merosin-deficient muscular dystrophy 1A
- Also called
- CMD1Acongenital merosin-deficient muscular dystrophy type 1Acongenital muscular dystrophy caused by mutation in LAMA2congenital muscular dystrophy due to laminin alpha2 deficiencyLAMA2 congenital muscular dystrophyMDC1Amerosin-deficient congenital muscular dystrophy type 1Amerosin-negative congenital muscular dystrophymuscular dystrophy, congenital merosin-deficient, type 1Amuscular dystrophy, congenital, merosin deficient or partially deficient