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

Autosomal recessive centronuclear myopathy


Other Names:
Myopathy, centronuclear, autosomal recessive; Myopathy, Centronuclear, 2; AR-CNM
Categories:
This disease is grouped under:
Autosomal recessive centronuclear myopathy (AR-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AR-CNM, specifically, affected people generally begin showing signs and symptoms during infancy or early childhood. The features of the condition can vary but may include progressive muscle weakness, foot abnormalities, high-arched palate, scoliosis, ptosis, mild to severe breathing problems, delayed motor milestones and cardiomyopathy (less commonly). Most cases of AR-CNM are caused by changes (mutations) in the BIN1 gene; however, some affected families are reported to have mutations in the SPEG, TTN, or RYR1 genes. The condition is inherited in an autosomal recessive manner.[1][2][3] Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.[2][4]
Last updated: 8/6/2015

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
30%-79% of people have these symptoms
Difficulty climbing stairs
Difficulty walking up stairs
0003551
Difficulty running 0009046
Generalized amyotrophy
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ] 		0003700
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Gowers sign 0003391
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Motor delay 0001270
Progressive muscle weakness 0003323
Respiratory insufficiency
Respiratory impairment
0002093
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
5%-29% of people have these symptoms
Abnormal heart valve morphology 0001654
Areflexia
Absent tendon reflexes
0001284
Bifid uvula 0000193
Centrally nucleated skeletal muscle fibers 0003687
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Dysarthria
Difficulty articulating speech
0001260
Dysphonia
Inability to produce voice sounds
0001618
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 0003403
Facial diplegia 0001349
Hip contracture 0003273
Hyperlordosis
Prominent swayback
0003307
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Left ventricular hypertrophy 0001712
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Long fingers 0100807
Narrow mouth
Small mouth
0000160
Ophthalmoplegia
Eye muscle paralysis
0000602
Pes cavus
High-arched foot
0001761
Protruding ear
Prominent ear
Prominent ears
[ more ] 		0000411
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
Scapular winging
Winged shoulder blade
0003691
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Type 1 muscle fiber predominance 0003803
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Axial muscle weakness 0003327
Distal muscle weakness
Weakness of outermost muscles
0002460
EMG: myopathic abnormalities 0003458
Facial palsy
Bell's palsy
0010628
Feeding difficulties in infancy 0008872
Flexion contracture
Flexed joint that cannot be straightened
0001371
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Onset
Age symptoms begin
0003674
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Ptosis
Drooping upper eyelid
0000508
Scoliosis 0002650
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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
The main differential diagnoses include other congenital myopathies, myotonic dystrophy and, if facial involvement is prominent, facioscapulohumeral dystrophy (FSH; 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 Autosomal recessive centronuclear myopathy. 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

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

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

  • Genetics Home Reference (GHR) contains information on Autosomal recessive centronuclear myopathy. This website is maintained by the National Library of Medicine.
  • Muscular Dystrophy Association has information and resources about Autosomal recessive centronuclear myopathy. Please click on the link to access this resource.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • 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 Autosomal recessive centronuclear myopathy. 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.

  1. Centronuclear Myopathy. Genetics Home Reference. 2010; http://ghr.nlm.nih.gov/condition/centronuclear-myopathy.
  2. Centronuclear Myopathy. NORD. 2013; http://rarediseases.org/rare-diseases/centronuclear-myopathy/.
  3. MYOPATHY, CENTRONUCLEAR, 5. OMIM. 2014; http://www.omim.org/entry/615959?search=centronuclear&highlight=centronuclear.
  4. Glenn Lopate, MD. Congenital Myopathies. Medscape Reference. August 2014; http://emedicine.medscape.com/article/1175852-overview.