Congenital muscular dystrophy type 1A

Print

Disease Overview

Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and includes a multidisciplinary approach.[4412]


Synonyms

  • Merosin-negative congenital muscular dystrophy
  • Merosin-deficient congenital muscular dystrophy
  • Muscular dystrophy, congenital, merosin-deficient
  • MDC1A
  • Laminin alpha-2 deficiency
  • LAMA2-related muscular dystrophy

For more information, visit GARD.

National Organization for Rare Disorders