What is LAMA-2 CMD?

Laminin alpha-2 related congenital muscular dystrophy, known better as LAMA2-CMD, is a rare muscle disease present from birth.

  • Caused by a mutation in the laminin alpha-2 gene (LAMA2), referred to as Merosin-Deficient Congenital Muscular Dystrophy type 1A (MDC1A), due to the lack of the protein Merosin (Laminin-211).
  • This protein ensures the stability of muscle cells, and its deficiency leads to muscle weakness and lack of muscle tone.
  • Estimated to affect 8.3 per million worldwide and in east asia it's just 1.79 per million
  • One of the most common congenital muscular dystrophies, accounting for 38% to 48% of cases.
  • The gene mutation is recessive, meaning a person can carry the gene mutation without showing symptoms.
  • Inherited in an autosomal recessive pattern, where both parents must have a mutated version of the gene for a child to be affected.
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Symptoms of Lama2 CMD

  • The spectrum ranges from severe phenotypes presenting with Hypotonia, muscle weakness, and contractures at birth or early infancy (complete deficiency) to milder, late-onset limb girdle muscular dystrophy (LGMD)-like phenotypes (partial deficiency).

  • About 90% of cases are congenital-onset severe phenotypes.

  • Motor Milestones: Affected children often reach motor milestones later, with more than 90% not achieving independent walking.

  • Muscle Contractures: Development of contractures restricting limb and joint movement.

  • Chest Deformities and Scoliosis: Many children develop these deformities.

  • Respiratory Issues: Weakness of respiratory muscles can lead to frequent chest infections and poor breathing at night.

  • Cardiac Involvement: Severe cardiac issues are rare, but rhythm abnormalities can occur.

  • Seizures: Around 30% experience seizures, typically manageable with antiepileptic medications.

  • Severity: Partial loss of laminin-211 leads to milder symptoms, with independent walking typically achieved, but the clinical course and progression are not fully known.

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How is Lama2 Diagnosed

  • LAMA2-CMD is usually suspected based on the person's symptoms. A specific diagnosis can be made by muscle biopsy (taking a piece of muscle to examine it) and by looking at the person's blood. Blood testing measures the level of an enzyme called Creatine Kinase (CK). This is an enzyme that is often very elevated in individuals with LAMA2-CMD.

  • Symptoms of LAMA2-CMD can start to appear as a newborn. Depending on the type of LAMA2 -CMD, the age that symptoms start to appear at can change. When there is a partial deficiency of the merosin protein, symptoms usually range between early childhood to adulthood. In the case of a complete absence of the merosin protein, symptoms usually start after birth into early childhood.

  • Congenital muscular dystrophy type 1A (MDC1A) These symptoms are usually seen when children are born or within the first six months of life. Babies born with LAMA2 CMD often have weaker muscles. They become more floppy and may not move as much as other children. They may find it hard to sit without help or lift up their heads. Babies may also have a harder time feeding and breathing. This might mean that LAMA2 CMD children take longer to physically develop (longer to reach motor milestones). As they get older, children can also start to develop a curve in their back, called scoliosis.

  • Late-onset LAMA2-MD (clinically heterogeneous group) These symptoms are usually seen during childhood or even adulthood. Similarly to MDC1A, people with late onset LAMA2 CMD often also struggle with muscle weakness. They also take longer to physically develop. Only a very small proportion of children with LAMA2 are able to walk independently. Muscle weakness does not tend to rapidly progress and motor function remains relatively stable throughout childhood. When children reach puberty however, and grow taller and heavier, children might experience additional difficulties.

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Know From the Doctors

The spectrum ranges from severe phenotypes presenting with Hypotonia, muscle weakness, and contractures at birth or early infancy (complete deficiency) to milder, late-onset limb girdle muscular dystrophy (LGMD)-like phenotypes (partial deficiency).

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