Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness.

2023年12月6日 · Facioscapulohumeral muscular dystrophy (FSHD) is an inherited disease that often affects muscles in your face and upper body but can spread to any muscle in your body. Symptoms typically develop between adolescence and age 20 to 30. There’s no cure for FSHD, but there are therapies to ease your symptoms and help you keep up your quality of life.

2024年1月19日 · There are two genetically distinct forms of FSHD, FSHD1, and FSHD2, which are caused by the inappropriate expression of DUX4 [4]. Different pathways, including the D4Z4 repeat number in FSHD1 and heterozygous pathogenic SMCHD1 variants in FSHD2, result in D4Z4 chromatin relaxation and abnormal expression of DUX4.

Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause.

2021年3月5日 · Facioscapulohumeral muscular dystrophy-2 (FSHD2) 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.

2020年5月6日 · Two types of FSHD have been described, FSHD1 (95% of those affected) and FSHD2 (5% of those affected). FSHD1 and FSHD2 have the same signs and symptoms but different genetic causes. FSHD1 is caused by abnormal expression of the DUX4 gene, which is located in the D4Z4 region of chromosome 4.

Because FSHD2 results from the chance of inheriting two separate genetic predisposition, the inheritance pattern is complicated and depends on the genetic profile of the parents. FSHD1 and 2 are clinically indistinguishable as far their clinical features.

FSHD2 is caused by mutations in the SMCHD1 gene on chromosome 8 that activate the DUX4 gene. FSHD has an estimated prevalence of 1 in 20,000 people. About 95% of all cases are FSHD1; the remaining 5% are FSHD2. FSHD affects the lungs in about 15% of individuals. The heart is rarely affected. It doesn’t cause learning

Facioscapulohumeral muscular dystrophy type 2 (FSHD2) accounts for approximately 5% of all cases of FSHD and describes patients without a D4Z4 repeat contraction on chromosome 4. Phenotypically FSHD2 shows virtually no difference from FSHD1 and both forms of FSHD arise via a common downstream mechanism of epigenetic derepression of the ...

Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause.