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Disease Profile

Autosomal dominant 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

Adolescent

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.

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, 1; Myotubular Myopathy, Autosomal Dominant; DNM2-related centronuclear myopathy;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don't develop until adolescence or early adulthood and may include slowly progressive muscle weakness, muscle pain with exercise and difficulty walking. Although some affected people will eventually lose the ability to walk, this usually does not occur before the 6th decade of life. In more severe cases, affected people may develop symptoms during infancy or early childhood such as hypotonia and generalized weakness. These children generally have delayed motor milestones and often need wheelchair assistance in childhood or adolescence. Most cases of AD-CNM are caused by changes (mutations) in the DNM2 gene; however, some affected families are reported to have mutations in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant manner.[1][2] 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][3]

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
80%-99% of people have these symptoms
Centrally nucleated skeletal muscle fibers
0003687
30%-79% of people have these symptoms
Abnormality of the foot musculature
Abnormal foot muscles
0001436
Decreased fetal movement
Less than 10 fetal movements in 12 hours
0001558
Delayed gross motor development
Delayed motor skills
0002194
Difficulty walking
Difficulty in walking
0002355
EMG: myopathic abnormalities
0003458
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Large for gestational age
Birth weight > 90th percentile
Birthweight > 90th percentile

[ more ]

0001520
Macrocephaly at birth
Big skull present at birth
Big skull present since birth
Large skull present at birth
Large skull present since birth

[ more ]

0004488
Mildly elevated creatine kinase
0008180
Muscle fibrillation
0010546
Polyhydramnios
High levels of amniotic fluid
0001561
Proximal muscle weakness in lower limbs
0008994
Proximal muscle weakness in upper limbs
0008997
Ptosis
Drooping upper eyelid
0000508
Spontaneous abortion
0005268
Thin ribs
Slender ribs
0000883
Type 1 muscle fiber predominance
0003803
5%-29% of people have these symptoms
Areflexia of lower limbs
0002522
Calf muscle hypertrophy
Increased size of calf muscles
0008981
Cavernous hemangioma
Collection of dilated blood vessels that forms mass
0001048
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Exercise-induced myalgia
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced

[ more ]

0003738
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Neonatal asphyxia
0012768
Peripheral axonal neuropathy
0003477
Pyloric stenosis
0002021
Respiratory insufficiency due to muscle weakness
Decreased lung function due to weak breathing muscles
0002747
Skeletal muscle hypertrophy
Increased skeletal muscle cells
0003712
Urinary incontinence
Loss of bladder control
0000020
1%-4% of people have these symptoms
Malignant hyperthermia
0002047
Percent of people who have these symptoms is not available through HPO
Areflexia
Absent tendon reflexes
0001284
Autosomal dominant inheritance
0000006
Easy fatigability
0003388
Facial palsy
Bell's palsy
0010628
Flexion contracture
Flexed joint that cannot be straightened
0001371
Hyperlordosis
Prominent swayback
0003307
Motor delay
0001270
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Sleepy facial expression
0005335
Slow progression
Signs and symptoms worsen slowly with time
0003677

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

      Organizations Providing General Support

        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 dominant centronuclear myopathy. This website is maintained by the National Library of Medicine.
        • Muscular Dystrophy Association has information and resources about Autosomal dominant 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 dominant 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. Glenn Lopate, MD. Congenital Myopathies. Medscape Reference. August 2014; https://emedicine.medscape.com/article/1175852-overview.