Facioscapulohumeral dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FSHD FSH dystrophy Facioscapulohumeral myopathy Landouzy-Dejerine myopathy Facioscapulohumeral muscular dystrophy |
| Number of Symptoms | 29 |
| OrphanetNr: | 269 |
| OMIM Id: |
158900
158901 600416 |
| ICD-10: |
G71.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Infancy Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Progressive muscular dystrophy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0012473) | Tongue atrophy | 8 / 7739 | ||||
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(HPO:0000298) | Mask-like facies | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(HPO:0200102) | Sparse or absent eyelashes | Frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0100540) | Palpebral edema | Frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0008046) | Abnormality of the retinal vasculature | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0000544) | External ophthalmoplegia | 40 / 7739 | ||||
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(HPO:0007763) | Retinal telangiectasia | 6 / 7739 | ||||
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(HPO:0012231) | Exudative retinal detachment | 3 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0002015) | Dysphagia | Rare [HPO:probinson] | 301 / 7739 | |||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0003691) | Scapular winging | 51 / 7739 | ||||
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(HPO:0003547) | Shoulder girdle muscle weakness | 21 / 7739 | ||||
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(HPO:0008981) | Calf muscle hypertrophy | 28 / 7739 | ||||
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(HPO:0003307) | Hyperlordosis | Very frequent [Orphanet] | 122 / 7739 | |||
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(HPO:0009023) | Abdominal wall muscle weakness | 12 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0002111) | Restrictive deficit on pulmonary function testing | 25 / 7739 | ||||
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(HPO:0003724) | Shoulder girdle muscle atrophy | 14 / 7739 | ||||
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(HPO:0003457) | EMG abnormality | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0008970) | Scapulohumeral muscular dystrophy | 4 / 7739 | ||||
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(HPO:0011463) | Childhood onset | 65 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Very frequent [Orphanet] | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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