Congenital muscular dystrophy type 1A
Other Names for this Disease
- Merosin-negative congenital muscular dystrophy
- Merosin-deficient congenital muscular dystrophy
- Muscular dystrophy, congenital, merosin-deficient
- Laminin alpha-2 deficiency
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There is currently no cure for congenital muscular dystrophy type 1A (MDC1A) and treatment generally focuses on managing the individual signs and symptoms of the condition. A multidisciplinary approach is often needed and may improve the quality and longevity of life. This may include a joint effort by orthopedic and respiratory specialists; physiotherapists; occupational therapists; and speech-language therapists. The main objective is helping each affected individual reach their full potential. Seizures or other neurological complications may require specific treatment. The prognosis of this condition is poor, as many affected children do not reach adolescence.
Last updated: 9/26/2011
- 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.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
- ClinicalTrials.gov lists trials that are studying or have studied Congenital muscular dystrophy type 1A. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.