Rare Endocrinology News
Disease Profile
MYH7-related scapuloperoneal 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.
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Age of onset
Adult
ICD-10
G71.0
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Scapuloperoneal myopathy, MYH7-related; MYH7-related late-onset scapuloperoneal syndrome; MYH7-related late-onset SPMD;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
MYH7-related scapuloperoneal myopathy is an
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 | ||
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 |
Foot dorsiflexor weakness |
Foot drop
|
0009027 |
Increased endomysial connective |
0100297 | |
Increased variability in muscle fiber diameter | 0003557 | |
Shoulder girdle muscle weakness |
Weak shoulder muscles
|
0003547 |
Tibialis muscle weakness | 0008963 | |
30%-79% of people have these symptoms | ||
Centrally nucleated skeletal muscle fibers | 0003687 | |
Decreased Achilles reflex | 0009072 | |
Decreased patellar reflex |
Decreased knee jerk reflex
|
0011808 |
Difficulty walking |
Difficulty in walking
|
0002355 |
EMG: myopathic abnormalities | 0003458 | |
Hand muscle weakness | 0030237 | |
Pes cavus |
High-arched foot
|
0001761 |
Scapular winging |
Winged shoulder blade
|
0003691 |
Shoulder girdle muscle atrophy |
Shoulder girdle muscle wasting
Shoulder-girdle muscle atrophy
[ more ] |
0003724 |
Steppage gait |
High stepping
|
0003376 |
Upper limb amyotrophy | 0009129 | |
5%-29% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
Abnormal left ventricular function | 0005162 | |
Abnormality of the foot musculature |
Abnormal foot muscles
|
0001436 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Beevor's sign | 0030664 | |
Chronic pulmonary obstruction | 0006510 | |
Enlargement of the ankles | 0003029 | |
Facial palsy |
Bell's palsy
|
0010628 |
Heart murmur |
Heart murmurs
|
0030148 |
Hyperlordosis |
Prominent swayback
|
0003307 |
0000822 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Left anterior fascicular block | 0011711 | |
Limitation of movement at ankles | 0010505 | |
Limited hip movement | 0008800 | |
Limited neck flexion |
Limited neck flexibility
|
0005991 |
Limited shoulder movement | 0006467 | |
Limited wrist extension | 0006251 | |
Muscle fiber splitting | 0003555 | |
Muscle spasm | 0003394 | |
Myopathic facies | 0002058 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Proximal lower limb amyotrophy |
Wasting of thigh muscle
|
0008956 |
Triceps weakness | 0031108 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Scapuloperoneal myopathy | 0009054 | |
Slow progression |
Signs and symptoms worsen slowly with time
|
0003677 |
Weakness of facial musculature |
Decreased facial muscle strength
Decreased strength of facial muscles
Face weakness
Facial muscle weakness
Facial weakness
Reduced facial muscle strength
Weakness of face
[ more ] |
0030319 |
Cause
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.
Treatment
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
- 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
- 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 MYH7-related scapuloperoneal myopathy. Click on the link to view a sample search on this topic.
References
- Scapuloperoneal myopathy. National Organization for Rare Disorders (NORD). 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/436/viewAbstract. Accessed 8/9/2012.
- Scapuloperoneal myopathy, MYH7-related. Online Mendelian Inheritance in Man (OMIM). 2008; https://omim.org/entry/181430. Accessed 8/9/2012.
- MYH7. Genetics Home Reference (GHR). 2008; https://ghr.nlm.nih.gov/gene/MYH7. Accessed 8/9/2012.
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