ORPHA:269
Facioscapulohumeral dystrophy
Synonyms: FSH dystrophy · FSHD · Facioscapulohumeral muscular dystrophy · Facioscapulohumeral myopathy · Landouzy-Dejerine dystrophy · Landouzy-Dejerine myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facioscapulohumeral dystrophy | FSH dystrophy · FSHD · Facioscapulohumeral muscular dystrophy · Facioscapulohumeral myopathy · Landouzy-Dejerine dystrophy · Landouzy-Dejerine myopathy |
| fr | Dystrophie facio-scapulo-humérale | Dystrophie FSH · Dystrophie de Landouzy-Dejerine · Dystrophie musculaire facio-scapulo-humérale · FSHD · Myopathie de Landouzy-Dejerine · Myopathie facio-scapulo-humérale |
| de | Muskeldystrophie, fazio-skapulo-humerale | FSH-Dystrophie · FSHD · Fazioskapulohumerale Muskeldystrophie · Landouzy-Déjérine-Dystrophie · Landouzy-Déjérine-Syndrom · Muskeldystrophie Landouzy-Dejerine |
| es | Distrofia facioescapulohumeral | Distrofia FSH · Distrofia de Landouzy-Dejerine · Distrofia muscular facioescapulohumeral · FSHD · Miopatía de Landouzy-Déjerine · Miopatía facioescapulohumeral |
| it | Distrofia facio-scapolo-omerale | Distrofia FSH · Distrofia muscolare facio-scapolo-omerale · FSHD · Miopatia di Landouzy-Dejerine · Miopatia facio-scapolo-omerale |
| nl | Facioscapulohumerale dystrofie | Dystrofie van Landouzy-Dejerine · FSH-dystrofie · FSHD · Facioscapulohumerale myopathie · Facioscapulohumerale spierdystrofie · Myopathie van Landouzy-Dejerine |
| pt | Distrofia facioscapulohumeral | |
| pl | Dystrofia mięśniowa twarzowo-łopatkowo-ramienna | Dystrofia FSH · Dystrofia mięśniowa Landouzy'ego i Dejerine'a · Dystrofia twarzowo-łopatkowo-ramienna · FSHD · Miopatia twarzowo-łopatkowo-ramienna |
| cs | FSHD | Facioskapulohumerální dystrofie · FSH dystrofie · Facioskapulohumerální svalová dystrofie · Facioskapulohumerální myopatie · Landouzyho-Dejerinova myopatie · Landouzy-Dejerinova myopatie |
| uk | Лице-лопатково-плечова дистрофія | Фаціоскапулоплечова мязова дистрофія · Фаціоскапулоплечова міопатія · Дистрофія ФСГ · FSHD · Дистрофія Ландузі-Дежеріна · Міопатія Ландузі-Дежеріна |
| zh | 面肩肱型营养不良 | 面肩肱肌营养不良 |
| tr | Fasiyoskapulohumeral distrofi | FSHD · FSH distrofisi · Landouzy-Dejerine miyopatisi · Fasiyoskapulohumeral miyopati · Fasiyoskapulohumeral kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158900 | BTNT | validated | |
| OMIM | 158901 | BTNT | validated | |
| OMIM | 600416 | BTNT | validated | |
| OMIM | 619477 | BTNT | validated | |
| OMIM | 619478 | BTNT | validated | |
| ICD-10 | G71.0 | NTBT | inclusion | validated |
| ICD-11 | 8C70.3 | E | specific | validated |
| MONDO | 0001347 | E | validated | |
| MeSH | D020391 | E | validated | |
| UMLS | C0238288 | E | validated | |
| GARD | 9941 | E | validated | |
| MedDRA | 10064087 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DUX4 | Candidate gene tested in | Not yet assessed | HGNC:50800 | ENSG00000260596 | 606009 | 4q35.2 | double homeobox 4 | |
| DUX4L1 | Candidate gene tested in | Not yet assessed | HGNC:3082 | ENSG00000280757 | 4q35.2 | double homeobox 4 like 1 (pseudogene) | ||
| FRG1 | Candidate gene tested in | Not yet assessed | HGNC:3954 | ENSG00000109536 | 601278 | 4q35.2 | FSHD region gene 1 | 23300487[PMID]_23525014[PMID]_23720823[PMID] |
| SMCHD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29090 | ENSG00000101596 | 614982 | 18p11.32 | structural maintenance of chromosomes flexible hinge domain containing 1 | 23143600[PMID]_24128691[PMID] |
| DNMT3B | Modifying germline mutation in | Assessed | HGNC:2979 | ENSG00000088305 | 602900 | 20q11.21 | DNA methyltransferase 3 beta | 27153398[PMID] |
| SMCHD1 | Modifying germline mutation in | Assessed | HGNC:29090 | ENSG00000101596 | 614982 | 18p11.32 | structural maintenance of chromosomes flexible hinge domain containing 1 | 24075187[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.5 / 100 000 | Europe | Value and class | Validated | 19320656[PMID]_22217918[PMID]_19767415[PMID]_[EXPERT]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 4.4 / 100 000 | Italy | Value and class | Validated | 19320656[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.95 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Japan | Value and class | Validated | 1745328[PMID] |
| Point prevalence | 1-5 / 10 000 | 12 / 100 000 | Netherlands | Value and class | Validated | 25122204[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | Netherlands | Value and class | Validated | 25122204[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
37 annotations · validated 2024-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003307 | Hyperlordosis | |
| HP:0000298 | Mask-like facies | |
| HP:0003323 | Progressive muscle weakness | |
| HP:0003691 | Scapular winging | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0009023 | Abdominal wall muscle weakness | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0030664 | Beevor's sign | |
| HP:0100595 | Camptocormia | |
| HP:0012532 | Chronic pain | |
| HP:0000509 | Conjunctivitis | |
| HP:0004673 | Decreased facial expression | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0000491 | Keratitis | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0030002 | Nocturnal lagophthalmos | |
| HP:0012037 | Pectoralis amyotrophy | |
| HP:0000767 | Pectus excavatum | |
| HP:0001538 | Protuberant abdomen | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0011712 | Right bundle branch block | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003376 | Steppage gait | |
| HP:0006587 | Straight clavicles | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0007898 | Exudative retinopathy | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000541 | Retinal detachment | |
| HP:0001250 | Seizure | |
| HP:0005115 | Supraventricular arrhythmia | |
| HP:0000572 | Visual loss | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301616[PMID]_27922500[PMID]_PNDS 2021[OTHER]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/269
- This record as JSON: /data/d/269.json