Thelansis

 Facioscapulohumeral muscular dystrophy (FSHD) stands out as a genetic muscle disorder with a primary impact on facial, shoulder, and upper arm muscles. This condition is categorized into type 1 (FSHD1) and type 2 (FSHD2), presenting identical signs and symptoms but differing in their genetic origins. Initially, FSHD manifests as facial, shoulder girdle, and arm muscle weakness. Facial weakness may lead to restricted lip movements, causing challenges like whistling, using a straw, or puckering the lips. Notably, individuals with FSHD may acquire a distinctive "mask-like" facial appearance. Upper facial weakness can also result in an inability to close the eyes during sleep. FSHD1 is attributed explicitly to abnormal expression of the DUX4 gene, found on chromosome 4 in the D4Z4 region. The DNA in this region usually undergoes hypermethylation and contains 11-100 repeated DNA segments. Notably, each pregnancy involving an affected parent carries a 50% risk of passing on the ab...

  Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that primarily affects the muscles of the face, shoulder blades, and upper arms. Researchers identified two types of facioscapulohumeral muscular dystrophy (FSHD): type 1 (FSHD1) and type 2 (FSHD2) (FSHD2). The two types have identical signs and symptoms but differ due to their genetic cause. Initially, FSHD may cause weakness in the muscles of the face, shoulder girdle, and arms. Facial weakness can cause limited lip movements, making it difficult to whistle, use a straw, or pucker the lips. Affected people may develop a distinct "mask-like" facial appearance. Upper facial weakness may also result in an inability to close the eyes entirely during sleep. FSHD1 is caused by abnormal expression of the DUX4 gene, which is located on chromosome 4 in the D4Z4 region. The DNA in the D4Z4 area is typically hypermethylated and contains 11-100 repeated segments of DNA. For each pregnancy, the risk of passing the abn...