Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Congenital muscular dystrophy type 1A alone.
Find your community on the free RareGuru App.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.
Source: GARD Last updated on 05-01-20
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. 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). Affected children may also develop an elongated face. Approximately 20-30% experience seizures. The majority of affected individuals have normal intellectual abilities. The prognosis of this condition is poor, as many affected children do not reach adolescence.
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. One study reported that approximately 12% of individuals have later onset, slowly progressive weakness.
Last updated on 05-01-20
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
1%-4% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Pulmonary arterial hypertension |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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
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
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
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.