Disease Profile

Autosomal recessive centronuclear myopathy

Prevalence ?
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.

Unknown

Age of Onset

Childhood

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ICD-10

G71.2

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other Names (AKA)

Myopathy, centronuclear, autosomal recessive; Myopathy, Centronuclear, 2; AR-CNM

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

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]

Symptoms

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
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

Diagnosis

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.

    Organizations

    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

      Learn More

      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.

          References

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