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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital muscular dystrophy type 1A


Other Names for this Disease

  • LAMA2-related muscular dystrophy
  • Laminin alpha-2 deficiency
  • MDC1A
  • Merosin-deficient congenital muscular dystrophy
  • Merosin-negative congenital muscular dystrophy
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Symptoms

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What are the signs and symptoms of congenital muscular dystrophy type 1A?

Infants with congenital muscular dystrophy type 1A (MDC1A) typically have poor muscle tone (hypotonia) and muscle weakness at birth. Within weeks after birth, some affected infants may have feeding and respiratory difficulties. Motor development is often delayed and limited. Most affected infants can sit unsupported and some can stand without assistance. Only a few children with MDC1A are eventually able to walk unassisted.[1] Additional signs and symptoms that affected individuals may experience include joint contractures (stiff or "frozen" joints), congenital hip dislocation, scoliosis, and ophthalmoplegia (paralysis or weakness in the muscles of the eye).[1] Affected children may also develop an elongated face. Approximately 20-30% experience seizures.[2] The majority of affected individuals have normal intellectual abilities.[2] The prognosis of this condition is poor, as many affected children do not reach adolescence.[3]

Although most individuals affected with MDC1A have complete deficiency of the merosin protein, a few individuals have only a partial deficiency. Among individuals with a partial deficiency, the severity and age of onset varies greatly.[2] One study reported that approximately 12% of individuals have later onset, slowly progressive weakness.[4]
Last updated: 9/26/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital muscular dystrophy type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Intellectual disability 5%
Abnormal cortical gyration -
Areflexia -
Autosomal recessive inheritance -
Congenital muscular dystrophy -
Congenital onset -
Elevated serum creatine phosphokinase -
Feeding difficulties in infancy -
Flexion contracture -
Hypointensity of cerebral white matter on MRI -
Kyphoscoliosis -
Motor delay -
Muscular dystrophy -
Muscular hypotonia -
Respiratory insufficiency due to muscle weakness -
Seizures -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Congenital Muscular Dystrophy. NORD. January 6, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1196/viewAbstract. Accessed 9/26/2011.
  2. Susan Sparks et al. Congenital Muscular Dystrophy Overview. GeneReviews. January 4, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1291/. Accessed 9/26/2011.
  3. M. Fardeau. Congenital muscular dystrophy type 1A. Orphanet. April 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=258. Accessed 9/26/2011.
  4. K. Jones et al. The expanding phenotype of laminin a2 chain (merosin) abnormalities: case series and review. J Med Genet. October 2001; 38(10):649-657.


Other Names for this Disease
  • LAMA2-related muscular dystrophy
  • Laminin alpha-2 deficiency
  • MDC1A
  • Merosin-deficient congenital muscular dystrophy
  • Merosin-negative congenital muscular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.