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OrphanAnesthesia
N. Jimenez, D. E. Liston

Merosin-deficient congenital muscular dystrophy

Merosin-deficient congenital muscular dystrophy

Schlüsselwörter Merosin-deficient congenital muscular dystrophy; ICD 10: G71.0; Complete merosin deficient congenital muscular dystrophy, Congenital muscular dystrophy with primary laminin 2 (merosin) deficiency, Merosin negative congenital muscular dystrophy, LAMA-2 related muscular dystrophy (early and late onset LAMA-2 deficiency), Congenital muscular dystrophy, type 1A, MDCA1A
Keywords Merosin-deficient congenital muscular dystrophy; ICD 10: G71.0; Complete merosin deficient congenital muscular dystrophy, Congenital muscular dystrophy with primary laminin 2 (merosin) deficiency, Merosin negative congenital muscular dystrophy, LAMA-2 related muscular dystrophy (early and late onset LAMA-2 deficiency), Congenital muscular dystrophy, type 1A, MDCA1A
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Summary

Congenital muscular dystrophies (CMDs) are rare, autosomal recessive genetic disorders that are clinically and genetically heterogeneous. All CMDs are characterized by progressive muscle weakness, delayed motor development, and dystrophic changes on muscle biopsy.

Merosin-deficient-congenital muscular dystrophy (MD-CMD) is characterized by severe progressive muscle weakness that results in contractures, scoliosis, and restrictive pulmonary disease. MD-CMD is the most common and severe form, representing 40% of all CMDs. It is caused by a mutation in the laminin α2 gene (LAMA2-on chromosome 6q22-23) resulting in absence of the laminin α2 chain (aka merosin) around muscle fibres. In addition to the clinical characteristics described above, patients with MD-CMD may present with elevated creatinine kinase (CK) diffuse white matter hyperintensities on brain MRI and seizures (in 30% of patients). Most of these patients have normal intelligence. Approximately one third of MD-CMD patients also have cardiac abnormalities including arrhythmias, and dilated cardiomyopathy. Anesthesia for these patients is required for both diagnostic and surgical procedures.  Typical diagnostic procedures include MRI, endoscopies and muscle biopsies. Typical surgical procedures include contracture release, spine fusion, tracheostomy, and gastrostomy.

The main anesthetic concerns include:

  1. Difficult airway – due to hypotonia, limited mouth opening from jaw contractures, maxillary discrepancy and macroglossia
  2. Intra- and post-operative management of respiratory function, which is frequently compromised
  3. Use of depolarizing relaxants – due to potential hyperkalemic cardiac arrest and rhabdomyolysis (controversy still exists around the use of halogenated agents; our preference is to avoid these agents)
  4. Cardiovascular instability in patients with cardiac compromise
  5. Hypoglycemia
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