GTR Home > Conditions/Phenotypes > Search results - fshd

Refine your search

Limit to

Show all (5)
Display as description | related diseases

Results: 1 to 5 of 5

1.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive skeletal muscle disorder with a highly variable phenotpye. Most patients present as adults, although about 10% show symptoms before the age of 5 years, including from infancy in some cases. In general, the disease initially involves the upper body, including the face and the scapulae, followed by weakness at the foot dorsiflexors and hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles. There is significant clinical variability, even within families, as well as incomplete penetrance. FSHD1 accounts for about 95% of patients. Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; 310200) and myotonic (160900) dystrophy (Tawil et al., 1998; van den Boogaard et al., 2016; Johnson and Ankala, 2020; Schatzl et al., 2021). Richards et al. (2012) and Schatzl et al. (2021) provided detailed reviews of FSHD, including clinical features, genetics, diagnosis, pathogenesis, and potential therapeutic avenues. Genetic Heterogeneity of FSHD Several other genetic forms of FSHD that are clinically indistinguishable from FSHD1, but not associated with physical contraction of the D4Z4 microsatellite repeat, have been identified. Historically, these forms have collectively been called 'FSHD2.' Tissue from patients with 'FSHD2' shows D4Z4 hypomethylation on chromosomes 4 and 10, suggesting the presence of unique transactivating factors, some of which have been identified. Genetic forms of FSHD other than FSHD1 account for about 5% of patients overall (summary by Hamanaka et al., 2020; Johnson and Ankala, 2020; review by Schatzl et al., 2021). FSHD2 (158901) is caused by mutation in the SMCHD1 gene (614982) on chromosome 18p11; FSHD3 (619477) by mutation in the LRIF1 gene (615354) on chromosome 1p13; and FSHD4 (619478) by mutation in the DMNT3B gene (602900) on chromosome 20q11. Patients with FSHD2, FSHD3, and FSHD4 also carry a 'permissive haplotype' on chromosome 4 (4qA) that promotes DUX4 (606009) expression. There is significant clinical variability and incomplete penetrance. [from OMIM]

2.

Facioscapulohumeral muscular dystrophy 1a

Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened. [from GeneReviews]

3.

Facioscapulohumeral muscular dystrophy 2

Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened. [from GeneReviews]

4.

Facioscapulohumeral muscular dystrophy 4, digenic

Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles. With disease progression, other muscles also may become affected. There is significant clinical variability and incomplete penetrance (summary by van den Boogaard et al., 2016). For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900). [from OMIM]

5.

Facioscapulohumeral muscular dystrophy 3, digenic

Facioscapulohumeral muscular dystrophy-3 (FSHD3) is a digenic muscle disorder characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease (summary by Hamanaka et al., 2020). For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900). [from OMIM]

Results: 1 to 5 of 5

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center