Congenital muscular dystrophy type 1A

What is congenital muscular dystrophy type 1A?

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.

Last updated on 05-01-20

How might an individual with congenital muscular dystrophy type 1A be helped in a school environment?

Children with congenital muscular dystrophy type 1A (MDC1A) often need mechanical assistive devices, such as walkers, canes, orthotics and wheelchairs; these may be used as needed around school to help ambulation and mobility. It has also been recommended that posture, while standing and sitting, be evaluated and assisted if necessary because improved posture may improve chest expansion. Assistance such as a school technical aide can help affected children increase their social involvement and productivity. Providing resources for social and emotional support is also helpful and can reduce the sense of social isolation that is common in individuals with congenital muscular dystrophies.

Last updated on 05-01-20

How might congenital muscular dystrophy type 1A be treated?

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 on 05-01-20

Name: Muscular Dystrophy Family Foundation P.O. Box 776
Carmel, IN, 46082, United States
Phone: +1-317-615-9140 Email: info@mdff.org Url: https://mdff.org/ MDFF provides financial assistance, quality programs and services for the Muscular Dystrophy community in Indiana.
Name: Cure CMD - Congenital Muscular Dystrophy 19401 S. Vermont Ave., Suite J100
Torrance, CA, 90502, United States
Phone: 323-250-2399 or 424-265-0874 Email: info@curecmd.org Url: https://www.curecmd.org/
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org
Name: Muscular Dystrophy UK 61A Great Suffolk Street
London, SE1 0BU, United Kingdom
Phone: (+44) 0 020 7803 4800 Toll Free: 0800 652 6352 (Helpline) Email: info@musculardystrophyuk.org Url: https://www.musculardystrophyuk.org/

Connect with other users with Congenital muscular dystrophy type 1A on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App