Rare Endocrinology News

Disease Profile

MYH7-related scapuloperoneal 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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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

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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)

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 inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 geneAutosomal dominant inheritance is suggested in these cases.[1][2] Treatment is symptomatic and supportive.[1]

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 tissue
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
Hypertension
0000822
Intellectual disability
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
Autosomal dominant inheritance
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

MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta (β)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers.[3]

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

There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.[1]

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

  1. 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.
  2. Scapuloperoneal myopathy, MYH7-related. Online Mendelian Inheritance in Man (OMIM). 2008; https://omim.org/entry/181430. Accessed 8/9/2012.
  3. MYH7. Genetics Home Reference (GHR). 2008; https://ghr.nlm.nih.gov/gene/MYH7. Accessed 8/9/2012.

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