Facioscapulohumeral muscular dystrophy
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
FSHD; Muscular dystrophy, facioscapulohumeral; Facioscapulohumeral muscular dystrophy 1A;
Congenital and Genetic Diseases; Nervous System Diseases
Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a
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||
|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 creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
Lack of facial expression
Mask-like facial appearance
[ more ]
|Skeletal muscle atrophy||
[ more ]
|30%-79% of people have these symptoms|
|Abnormal eyelash morphology||
Abnormality of the eyelashes
[ more ]
|Abnormal retinal vascular morphology||
Abnormality of retina blood vessels
Fullness of eyelids
Swelling of eyelids
[ more ]
|Sensorineural hearing impairment||0000407|
|5%-29% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abdominal wall muscle weakness||0009023|
|Calf muscle hypertrophy||
Increased size of calf muscles
Symptoms begin in childhood
Paralysis or weakness of muscles within or surrounding outer part of eye
|Exudative retinal detachment||0012231|
Mental retardation, nonspecific
[ more ]
|Restrictive ventilatory defect||
Stiff lung or chest wall causing decreased lung volume
Winged shoulder blade
|Scapulohumeral muscular dystrophy||0008970|
|Shoulder girdle muscle atrophy||
Shoulder girdle muscle wasting
Shoulder-girdle muscle atrophy
[ more ]
|Shoulder girdle muscle weakness||
Weak shoulder muscles
Signs and symptoms worsen slowly with time
Wasting of the tongue
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis mainly includes limb-girdle muscular dystrophy but also neuromuscular diseases presenting with scapular winging as glycogen storage disease due to acid maltase deficiency, late-onset, endocrine myopathy, inclusion body myopathy with Paget disease of bone and frontotemporal dementia (see these terms), proximal neuropathies or neuronopathies.
Visit the Orphanet disease page for more information.
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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.
- Genetics Home Reference (GHR) contains information on Facioscapulohumeral muscular dystrophy. This website is maintained by the National Library of Medicine.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Facioscapulohumeral muscular dystrophy. Click on the link to view a sample search on this topic.