Autosomal recessive centronuclear myopathy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Myopathy, centronuclear, autosomal recessive; Myopathy, Centronuclear, 2; AR-CNM
Congenital and Genetic Diseases; Nervous System Diseases
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.
|Medical Terms||Other Names||
|30%-79% of people have these symptoms|
|Difficulty climbing stairs||
Difficulty walking up stairs
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ]
Decreased muscle tone
Low muscle tone
[ more ]
Increased palatal height
[ more ]
|Progressive muscle weakness||0003323|
Receding lower jaw
[ more ]
[ more ]
|5%-29% of people have these symptoms|
|Abnormal heart valve morphology||0001654|
Absent tendon reflexes
|Centrally nucleated skeletal muscle fibers||0003687|
|Delayed speech and language development||
Deficiency of speech development
Delayed language development
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
[ more ]
Difficulty articulating speech
Inability to produce voice sounds
|EMG: decremental response of compound muscle action potential to repetitive nerve stimulation||0003403|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|Left ventricular hypertrophy||0001712|
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
Eye muscle paralysis
[ more ]
|Respiratory insufficiency due to muscle weakness||
Decreased lung function due to weak breathing muscles
Winged shoulder blade
[ more ]
|Type 1 muscle fiber predominance||0003803|
|Percent of people who have these symptoms is not available through HPO|
|Axial muscle weakness||0003327|
|Distal muscle weakness||
Weakness of outermost muscles
|EMG: myopathic abnormalities||0003458|
|Feeding difficulties in infancy||0008872|
Flexed joint that cannot be straightened
[ more ]
Low muscle tone, in neonatal onset
Age symptoms begin
|Proximal muscle weakness||
Weakness in muscles of upper arms and upper legs
Drooping upper eyelid
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.
- 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.
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.
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.
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.
- 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.
- 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.
- Centronuclear Myopathy. Genetics Home Reference. 2010; https://ghr.nlm.nih.gov/condition/centronuclear-myopathy.
- Centronuclear Myopathy. NORD. 2013; https://rarediseases.org/rare-diseases/centronuclear-myopathy/.
- MYOPATHY, CENTRONUCLEAR, 5. OMIM. 2014; https://www.omim.org/entry/615959?search=centronuclear&highlight=centronuclear.
- Glenn Lopate, MD. Congenital Myopathies. Medscape Reference. August 2014; https://emedicine.medscape.com/article/1175852-overview.