Their work is predated by descriptions of probable individual FSHD cases. The significance of D4Z4 contraction on chromosome 4 was established in the 1990s. The DUX4 gene was discovered in 1999, found to be expressed and toxic in 2007, and in 2010 the genetic mechanism causing its expression was elucidated. In 2012, the gene most frequently mutated in FSHD2 was identified. In 2019, the first drug designed to counteract DUX4 expression entered clinical trials. Signs and symptoms
Classically, weakness develops in the face, then the shoulder girdle, then the upper arm. These muscles can be spared and other muscles usually are affected. The order of muscle involvement can cause the appearance of weakness "descending" from the face to the legs. Distribution and degree of muscle weakness is extremely variable, even between identical twins. Musculoskeletal pain is very common, most often described in the neck, shoulders, lower back, and the back of the knee. Fatigue is also common. Muscle weakness usually becomes noticeable on one side of the body before the other, a hallmark of the disease. The right shoulder and arm muscles are more often affected than the left upper extremity muscles, independent of handedness. : 139  Otherwise, neither side of the body has been found to be at more risk. Classically, symptoms appear in those 15 – 30 years of age, although infantile onset, adult onset, and absence of symptoms despite having the causal genetics also occur. FSHD1 with a very large D4Z4 deletion (EcoRI 10-11 kb) is more strongly associated with infantile onset and severe weakness.
Magnesium gluconate is a compound with formula MgC12H22O14. It is the magnesium salt of gluconic acid. According to one study, magnesium gluconate showed the highest level of bioavailability of any magnesium salt which implies its viability as a supplement, although of the 10 salts studied, all increased magnesium levels significantly. This study did not include magnesium glycinate, which is one of the most bioavailable forms of magnesium.It has E number "E580". Use in medicine
There are data on the pharmacological properties of magnesium gluconate. Gluconic acid is the initial substrate for the reactions of pentose phosphate path of oxidation of glucose, so it was suggested that it may affect the energy metabolism of mitochondria. In Ukraine, magnesium gluconate, together with potassium gluconate in the drug Rhythmocor is used to treat heart disease. Pilot studies have shown efficacy in various cardiac arrhythmia. Whether these effects are from the influence of gluconic acid on the metabolism of the heart or from the influence of magnesium and potassium on osmotic pressure is unknown. == References ==