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The 1/1 HPO counts cite Hamanaka 2020 and describe one assessed person."},{"gene":"DNMT3B","key":"MONDO:0030355","label":"FSHD4","mondoId":"MONDO:0030355","onsetQualifier":null,"recordKeys":["0d7291e4f2becdd5ba41f2a3d4615d1bffd58f62c2118f5f81db115608c6bf2f","11a26413ac0128444d4e19024b1c2ef34564ee929cf32f93299bc3b72ba6129f"],"recordQualifiers":{},"scopeLabel":"Rare catalog form","sourceIds":["OMIM:619478"],"sourceScope":"Clinical FSHD2 mechanism, separately named FSHD4 in MONDO/OMIM. These HPO listings cite van den Boogaard 2016; no frequency is supplied."}],"comparison":{"collapseColumnsLabel":"Show common comparisons","defaultColumnKeys":["MONDO:0001347","MONDO:0008030","MONDO:0008031","MONDO:0030354","MONDO:0030355"],"expandColumnsLabel":"Compare all forms","intro":"Whole-condition ranges and native subtype observations stay separate. FSHD3 and FSHD4 are rare catalog forms within the broader silencing-defect mechanism.","primaryFeatureIds":["HP:0003691","HP:0003547","HP:0009027","HP:0009023","HP:0003749","HP:0010628","HP:0030319","HP:0000407","HP:0000365"],"scopeNoteHtml":"

The All forms column contains Orphanet umbrella annotations. FSHD1 and FSHD2 use their own OMIM entries; LRIF1 and DNMT3B records retain the catalog labels FSHD3 and FSHD4. A 1/1 record describes one person, not the frequency in everyone with that form. Similar facial-feature terms retain their separate HPO identifiers.

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Clinical FSHD2 includes rare LRIF1 and DNMT3B silencing defects; MONDO/OMIM also assign those forms the names FSHD3 and FSHD4. Their annotations remain under their exact source entries. Spinal muscular atrophy, facioscapulohumeral type (OMIM:182970) is a different condition and is excluded.","importantHtml":""},"sections":[{"bodyHtml":"

FSHD affects muscles used to smile, close the eyes and lift the arms. Weak shoulder muscles can make the shoulder blades stick out. Weakness may also involve the trunk, hips and feet, making walking or climbing stairs harder.

Its genetic causes converge on DUX4, a gene normally kept quiet in adult muscle. Loss of that silencing allows harmful DUX4 activity.

Main clinical formWhat changes
FSHD1The D4Z4 repeated DNA region is shortened, usually to 1–10 repeat units.
FSHD2Control of gene silencing is disrupted, most often through SMCHD1. Rare causes involve LRIF1 or DNMT3B.

Both mechanisms require a compatible chromosome 4 background, called a permissive haplotype, that allows stable DUX4 expression.

Sources: MedlinePlus Genetics · DUX4 · GeneReviews

","key":"forms","title":"What causes FSHD?"},{"bodyHtml":"

Sources: GeneReviews: clinical variation and genetics · LRIF1 report · DNMT3B report

","key":"important","title":"Important differences"}],"sharedSources":[],"slug":"fshd","sourceDocuments":[{"name":"Facioscapulohumeral muscular dystrophy","reviewed":"2014-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:17.205002+00:00","label":"Causes","pageSha256":"1abf14de8b2e86e57c796fe785781bc9822a1916c31a11dfbe73f7599914af4f","sourceUrl":"https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy/#causes","status":"available","text":"Facioscapulohumeral muscular dystrophy is caused by genetic changes involving the long (q) arm of chromosome 4. Both types of the disease result from changes in a region of DNA near the end of the chromosome known as D4Z4. This region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3.3 kb) long. The entire D4Z4 region is normally hypermethylated, which means that it has a large number of methyl groups (consisting of one carbon atom and three hydrogen atoms) attached to the DNA. The addition of methyl groups turns off (silences) genes, so hypermethylated regions of DNA tend to have fewer genes that are turned on (active). Facioscapulohumeral muscular dystrophy results when the D4Z4 region is hypomethylated, with a shortage of attached methyl groups. In FSHD1, hypomethylation occurs because the D4Z4 region is abnormally shortened (contracted), containing between 1 and 10 repeats instead of the usual 11 to 100 repeats. In FSHD2, hypomethylation most often results from mutations in a gene called SMCHD1, which provides instructions for making a protein that normally hypermethylates the D4Z4 region. However, about 20 percent of people with FSHD2 do not have an identified mutation in the SMCHD1 gene, and the cause of the hypomethylation is unknown.\n\nHypermethylation of the D4Z4 region normally keeps a gene called DUX4 silenced in most adult cells and tissues. The DUX4 gene is located in the segment of the D4Z4 region closest to the end of chromosome 4. In people with facioscapulohumeral muscular dystrophy, hypomethylation of the D4Z4 region prevents the DUX4 gene from being silenced in cells and tissues where it is usually turned off. Although little is known about the function of the DUX4 gene when it is active, researchers believe that it influences the activity of other genes, particularly in muscle cells. It is unknown how abnormal activity of the DUX4 gene damages or destroys these cells, leading to progressive muscle weakness and atrophy.\n\nThe DUX4 gene is located next to a regulatory region of DNA on chromosome 4 known as a pLAM sequence, which is necessary for the production of the DUX4 protein. Some copies of chromosome 4 have a functional pLAM sequence, while others do not. Copies of chromosome 4 with a functional pLAM sequence are described as 4qA or \"permissive.\" Those without a functional pLAM sequence are described as 4qB or \"non-permissive.\" Without a functional pLAM sequence, no DUX4 protein is made. Because there are two copies of chromosome 4 in each cell, individuals may have two \"permissive\" copies of chromosome 4, two \"non-permissive\" copies, or one of each. Facioscapulohumeral muscular dystrophy can only occur in people who have at least one \"permissive\" copy of chromosome 4. Whether an affected individual has a contracted D4Z4 region or a SMCHD1 gene mutation, the disease results only if a functional pLAM sequence is also present to allow DUX4 protein to be produced.\n\nStudies suggest that mutations in the SMCHD1 gene, which cause FSHD2, can also increase the severity of the disease in people with FSHD1. Researchers suspect that the combination of a contracted D4Z4 region and a SMCHD1 gene mutation causes the D4Z4 region to have even fewer methyl groups attached, which allows the DUX4 gene to be highly active. In people with both genetic changes, the overactive gene leads to severe muscle weakness and atrophy."}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy"},{"name":"double homeobox 4","reviewed":"2014-07","source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/gene/dux4"},{"name":"structural maintenance of chromosomes flexible hinge domain containing 1","reviewed":"2017-05","source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/gene/smchd1"}],"sourceNote":"MedlinePlus Genetics and source-linked clinical context; review dates are listed below","takeawayHtml":"In brief: different genetic mechanisms allow DUX4 to become active in muscle. The form helps explain the cause; symptoms and progression vary between people.","title":"Facioscapulohumeral muscular dystrophy (FSHD)"},"schemaVersion":1}