Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared, and muscles of other areas usually are affected, especially those of the chest, spine, abdomen, and shin. Almost any skeletal muscle can be affected in severe disease. Abnormally positioned, or winged, scapulas are common, as is the inability to lift the foot, known as foot drop. The two sides of the body are often affected unequally. Weakness typically manifests at ages 15 – 30 years. FSHD can also cause hearing loss and blood vessel abnormalities in the back of the eye. FSHD is caused by a genetic mutation leading to deregulation of the DUX4 gene. Normally, DUX4 is expressed (i.e., turned on) in cells of the ovary and in very early human development, becoming repressed (i.e., turned off) by the time an embryo is several days old. In FSHD, DUX4 is inadequately repressed, allowing sporadic expression throughout life. Deletion of DNA in the region surrounding DUX4 is the causative mutation in 95% of cases, termed "D4Z4 contraction" and defining FSHD type 1 (FSHD1). FSHD caused by other mutations is FSHD type 2 (FSHD2). For disease to develop, also required is a 4qA allele, which is a common variation in the DNA next to DUX4.
Pupillary hippus, also known as pupillary athetosis, is spasmodic, rhythmic, but regular dilating and contracting pupillary movements between the sphincter and dilator muscles. Pupillary hippus comes from the Greek hippos meaning horse, perhaps due to the rhythm of the contractions representing a galloping horse.It is particularly noticeable when pupil function is tested with a light, but is independent of eye movements or changes in illumination. It is usually normal, however pathological hippus can occur.Pathologic hippus, the phenomenon of increased oscillation or their amplitude, is associated with aconite poisoning, altered mental status, trauma, cirrhosis, and renal disease; suggesting a common pathway of frontal lobe dysfunction. A retrospective study of 117 hospitalized patients with hippus noted an increased 30-day mortality when compared to controls and adjusted for other factors. See also
Athetosis
Anisocoria - condition characterized by an unequal size of the eyes pupils. == References ==