On average, FSHD2 presents 10 year later than FSHD1. Otherwise, FSHD1 and FSHD2 are indistinguishable on the basis of weakness. Disease progression is slow, and long static phases, in which no progression is apparent, is not uncommon. Less commonly, individual muscles rapidly deteriorate over several months. Face
Weakness of the muscles of the face is the most distinguishing sign of FSHD. It is typically the earliest sign, although it is rarely the initial complaint. At least mild facial weakness can be found in 90% or more with FSHD. One of the most common deficits is inability to close the eyelids, which can result in sleeping with the eyelids open and dry eyes. The implicated muscle is the orbicularis oculi muscle. Another common deficit is inability to purse the lips, causing inability to pucker, whistle, or blow up a balloon. The implicated muscle is the orbicularis oris muscle. A third common deficit is inability raise the corners of the mouth, causing a "horizontal smile," which looks more like a grin. Responsible is the zygomaticus major muscle.Weakness of various facial muscles contributes to difficulty pronouncing the letters M, B, and P. Facial expressions can appear diminished, arrogant, grumpy, or fatigued. Muscles used for chewing and moving the eyes are not affected. Difficulty swallowing is not typical, although can occur in advanced cases. FSHD is generally progressive, but it is not established whether facial weakness is progressive or stable throughout life.
Other causes include miscarriage, ectopic pregnancy, molar pregnancy, incompetent cervix, uterine rupture, and preterm labor. Bleeding in early pregnancy may be a sign of a threatened or incomplete miscarriage. In the second or third trimester a placenta previa (a placenta partially or completely overlying the cervix) may bleed quite severely. Placental abruption is often associated with uterine bleeding as well as uterine pain. Postmenopausal
Endometrial atrophy, uterine fibroids, and endometrial cancer are common causes of postmenopausal vaginal bleeding. About 10% of cases are due to endometrial cancer. Uterine fibroids are benign tumors made of muscle cells and other tissues located in and around the wall of the uterus. Women with fibroids do not always have symptoms, but some experience vaginal bleeding between periods, pain during sex, and lower back pain. Diagnostic evaluation
The cause of the bleeding can often be discerned on the basis of the bleeding history, physical examination, and other medical tests as appropriate. The physical examination for evaluating vaginal bleeding typically includes visualization of the cervix with a speculum, a bimanual exam, and a rectovaginal exam. These are focused on finding the source of the bleeding and looking for any abnormalities that could cause bleeding. In addition, the abdomen is examined and palpated to ascertain if the bleeding is abdominal in origin. Typically a pregnancy test is performed as well. If bleeding was excessive or prolonged, a CBC may be useful to check for anemia. Abnormal endometrium may have to be investigated by a hysteroscopy with a biopsy or a dilation and curettage.