Merosin Deficient CMD; Laminin alpha-2; LAMA2; Muscular Dystrophy Congenital; Merosin Positive CMD; LAMM; MDCMD; Congenital Muscular Dystrophy with laminin-alpha-2 deficiency; MDC1A; Classic CMD LAMA2

Merosin Deficient Congenital Muscular Dystrophy (CMD) is a rare and highly severe type of muscular dystrophy. Mutations in the LAMA2 gene have been identified as the cause of congenital merosin-deficient CMD. Children with this form of CMD lack all or part of the muscle protein merosin, or laminin.

The condition initially presents around 6 months with extreme weakness and contractures, resulting in failure to ambulate. Breathing problems may require treatment with tracheotomy. Most infants have normal intelligence, but intellectual disability and epilepsy associated with Merosin Deficient CMD have been reported. The severity of this condition is determined by the amount of the merosin protein that the child has.

Diagnostic testing: Testing includes:

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  Magnetic resonance imaging (MRI) scan of the brain;.

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  Serum creatine kinase (CK) concentration;

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  Muscle biopsy;

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  Immunostaining of muscle; and

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  Genetic testing.

Physical findings: Physical symptoms include:

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  Muscle weakness (hypotonia);

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  Poor feeding;

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  Weak cry;

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  Breathing problems;

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  Congenital hip dislocation;

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  Scoliosis; and

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  Seizures.

ICD-9: 359.0 Congenital hereditary muscular dystrophy

ICD-10: G71.09 Congenital hereditary muscular dystrophy

There is currently no cure for Merosin Deficient CMD. Treatment is symptomatic and supportive. Treatment approaches include physiotherapy to reduce contracture and arthrodesis to limit deformation. Ventilatory support and tracheotomy, when necessary, have contributed to a marked increase of the life expectancy for the most severely affected patients.

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