Rare Neurology News

Disease Profile

Myosin storage 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

-

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

rnn-autosomaldominant.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Hyaline body myopathy

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Myosin storage myopathy is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. Myosin storage myopathy is primarily characterized by muscle weakness with minimal or very slow progression. As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems.[1][2] Myosin storage myopathy is caused by changes (mutations) in the MYH7 gene and is typically inherited in an autosomal dominant manner.[1] Treatment is generally supportive and may include orthopedic treatments, as well as physical, occupational or speech therapy.[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
5%-29% of people have these symptoms
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Myopathic facies
0002058
Scoliosis
0002650
Percent of people who have these symptoms is not available through HPO
Abnormality of the cardiovascular system
Cardiovascular abnormality
0001626
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Calf muscle pseudohypertrophy
0003707
Centrally nucleated skeletal muscle fibers
0003687
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
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
EMG: myopathic abnormalities
0003458
Generalized limb muscle atrophy
Generalized muscle wasting
0009055
Generalized muscle weakness
0003324
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Onset
Age symptoms begin
0003674
Reduced vital capacity
0002792
Respiratory insufficiency
Respiratory impairment
0002093
Scapular winging
Winged shoulder blade
0003691
Scapuloperoneal amyotrophy
0003697
Scapuloperoneal weakness
0003704
Slow progression
Signs and symptoms worsen slowly with time
0003677
Type 1 muscle fiber predominance
0003803
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515

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

          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. 
            Autosomal dominant myosin storage myopathy
            Autosomal recessive myosin storage myopathy
          • 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 Myosin storage myopathy. Click on the link to view a sample search on this topic.

            References

            1. Myosin storage myopathy. Genetics Home Reference. February 2013; https://ghr.nlm.nih.gov/condition/myosin-storage-myopathy.
            2. Glenn Lopate, MD. Congenital Myopathies. Medscape Reference. August 2014; https://emedicine.medscape.com/article/1175852-overview.
            3. NINDS Congenital Myopathy Information Page. National Institute of Neurological Disorders and Stroke. May 25, 2017; https://www.ninds.nih.gov/Disorders/All-Disorders/Congenital-Myopathy-Information-Page.