Rare Gastroenterology News

Disease Profile

SEPN1-related 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

#N/A

ICD-10

#N/A

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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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
Percent of people who have these symptoms is not available through HPO
Abnormal rib cage morphology
Abnormality of the rib cage
0001547
Autosomal recessive inheritance
0000007
Axial muscle weakness
0003327
Facial palsy
Bell's palsy
0010628
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Flexion contracture
Flexed joint that cannot be straightened
0001371
Generalized amyotrophy
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized

[ more ]

0003700
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Generalized muscle weakness
0003324
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
High pitched voice
0001620
Increased variability in muscle fiber diameter
0003557
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Limited neck flexion
Limited neck flexibility
0005991
Motor delay
0001270
Muscular dystrophy
0003560
Muscular hypotonia
Low or weak muscle tone
0001252
Nasal speech
Nasal voice
0001611
Nocturnal hypoventilation
0002877
Nonprogressive
0003680
Poor head control
0002421
Reduced vital capacity
0002792
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Scoliosis
0002650
Short stature
Decreased body height
Small stature

[ more ]

0004322
Spinal rigidity
Reduced spine movement
0003306
Type 1 and type 2 muscle fiber minicore regions
0003787

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.

        In-Depth Information

        • 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. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss SEPN1-related myopathy. Click on the link to view a sample search on this topic.