Program Operations Manual System (POMS)
TN 40 (10-20)
DI 23022.450 Merosin Deficient Congenital Muscular Dystrophy
COMPASSIONATE ALLOWANCES INFORMATION
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MEROSIN
DEFICIENT CONGENITAL MUSCULAR DYSTROPHY |
ALTERNATE NAMES
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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
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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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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Immunostaining of muscle; and
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Physical findings: Physical symptoms include:
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Muscle weakness (hypotonia);
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Congenital hip dislocation;
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ICD-9: 359.0 Congenital hereditary muscular dystrophy
ICD-10: G71.09 Congenital hereditary muscular dystrophy
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PROGRESSION
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Prognosis is poor. Most children affected by Merosin Deficient CMD do not survive
into adolescence.
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TREATMENT
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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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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation: Clinical examination including a description of physical findings, family history,
genetic testing, electromyography or nerve conduction tests, and blood and enzyme
tests.
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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets |
110.08 B
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111.13
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Equals |
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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