National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital muscular dystrophy type 1A


Other Names:
Merosin-negative congenital muscular dystrophy; Merosin-deficient congenital muscular dystrophy; Muscular dystrophy, congenital, merosin-deficient; Merosin-negative congenital muscular dystrophy; Merosin-deficient congenital muscular dystrophy; Muscular dystrophy, congenital, merosin-deficient; MDC1A; Laminin alpha-2 deficiency; LAMA2-related muscular dystrophy See More
Categories:
This disease is grouped under:
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.[1]
Last updated: 9/26/2011
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.[2] 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).[2] Affected children may also develop an elongated face. Approximately 20-30% experience seizures.[3] The majority of affected individuals have normal intellectual abilities.[3] The prognosis of this condition is poor, as many affected children do not reach adolescence.[1]

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.[3] One study reported that approximately 12% of individuals have later onset, slowly progressive weakness.[4]
Last updated: 9/26/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Absent muscle fiber merosin 0030091
Congenital muscular dystrophy 0003741
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Highly elevated creatine kinase 0030234
Hypokinesia
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ] 		0002375
Inability to walk 0002540
Increased connective tissue 0009025
Motor delay 0001270
Muscle fiber atrophy
Muscle fiber degeneration
0100295
Myositis
Muscle inflammation
0100614
Respiratory failure 0002878
Weak cry 0001612
30%-79% of people have these symptoms
Abnormal brainstem MRI signal intensity 0012747
Abnormality of the temporomandibular joint
Abnormality of the jaw joint
Deformity of the jaw joint
Malformation of jaw joint
[ more ] 		0010754
Aspiration 0002835
Astrocytosis 0002446
Cerebral edema
Swelling of brain
0002181
EMG abnormality 0003457
Facial palsy
Bell's palsy
0010628
Flexion contracture
Flexed joint that cannot be straightened
0001371
Impaired mastication
Chewing difficulties
Chewing difficulty
Difficulty chewing
[ more ] 		0005216
Intellectual disability
Mental deficiency
Mental-retardation
Mental retardation
Mental retardation, nonspecific
[ more ] 		0001249
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] 		0000158
Recurrent lower respiratory tract infections
Recurrent chest infections
0002783
5%-29% of people have these symptoms
Abnormality of visual evoked potentials 0000649
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Atelectasis
Partial or complete collapse of part or entire lung
0100750
Cardiomyopathy
Disease of the heart muscle
0001638
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] 		0004325
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Focal-onset seizure
Seizure affecting one half of brain
0007359
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
Hyperlordosis
Prominent swayback
0003307
Hypoventilation
Slow breathing
Under breathing
[ more ] 		0002791
Intercostal muscle weakness
Muscle weakness between ribs
0004878
Myopathic facies 0002058
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] 		0000194
Ophthalmoplegia
Eye muscle paralysis
0000602
Pachygyria
Fewer and broader ridges in brain
0001302
Pontocerebellar atrophy 0006879
Protruding tongue
Prominent tongue
Tongue sticking out of mouth
[ more ] 		0010808
Reduced ejection fraction 0012664
Reduced tendon reflexes 0001315
Scoliosis 0002650
Sensorimotor neuropathy
Nerve damage causing decreased feeling and movement
0007141
1%-4% of people have these symptoms
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Percent of people who have these symptoms is not available through HPO
Abnormal cortical gyration 0002536
Areflexia
Absent tendon reflexes
0001284
Autosomal recessive inheritance 0000007
Congenital onset
Symptoms present at birth
0003577
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Feeding difficulties in infancy 0008872
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hypointensity of cerebral white matter on MRI 0007103
Increased endomysial connective tissue 0100297
Kyphoscoliosis 0002751
Muscular dystrophy 0003560
Muscular hypotonia
Low or weak muscle tone
0001252
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
Seizure 0001250
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Last updated: 7/1/2020
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.[1]
Last updated: 9/26/2011

Management Guidelines

  • 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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other forms of congenital muscular dystrophy, linked particularly with glycosylation and alpha-dystroglycan anomalies, as well as congenital structural myopathies (central core disease, multi-minicore myopathy, centronuclear myopathy), of which the causative genes have been identified in the majority of cases (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Congenital muscular dystrophy type 1A. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Congenital muscular dystrophy type 1A. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Congenital muscular dystrophy type 1A:
    Congenital Muscle Disease International Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • 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.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital muscular dystrophy type 1A. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I am a school nurse and have a new student attending our school with this diagnosis. I would like to learn more about the disease and what we can do to make this student as comfortable as possible. See answer


  1. 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.
  2. Congenital Muscular Dystrophy. NORD. January 6, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1196/viewAbstract. Accessed 9/26/2011.
  3. Susan Sparks et al. Congenital Muscular Dystrophy Overview. GeneReviews. January 4, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1291/. 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.