FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2

General Information (adopted from Orphanet):

Synonyms, Signs: FSHD1B
MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 2
MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC
FSHD2, DIGENIC
FSHD2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 158901
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Digenic inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010628) Facial palsy 146 / 7739
2
(HPO:0000365) Hearing impairment 18% [HPO:probinson] 539 / 7739
3
(HPO:0009027) Foot dorsiflexor weakness 45 / 7739
4
(HPO:0003691) Scapular winging 18% [HPO:probinson] 51 / 7739
5
(HPO:0003749) Pelvic girdle muscle weakness 15 / 7739
6
(HPO:0008970) Scapulohumeral muscular dystrophy 4 / 7739
7
(HPO:0010984) Digenic inheritance 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by ...
Clinical Description OMIM De Greef et al. (2010) examined 33 patients with FSHD2, defined as having no D4Z4 repeat less than 11 units on the permissive 4A161 haplotype, low D4Z4 methylation levels on chromosomes 4q and 10q, and a clinical phenotype ...
Genotype-Phenotype Correlations OMIM Sacconi et al. (2013) found that mutation in the SMCHD1 gene is a modifier of disease severity in families affected by FSHD1. Three unrelated families with intrafamilial clinical variability of the disorder were studied. In 1 family, a ...
Molecular genetics OMIM Among 33 patients with FSHD2, de Greef et al. (2010) found that all carried at least 1 D4Z4 repeat at chromosome 4q on the permissive haplotype 4A161. The shortest repeat on average was 16, which is shorter than ...