"Patients may present at emergency rooms with severe fixed contractures of the muscles and often severe pain. These require urgent assessment for rhabdomyolysis as in about 30% of cases this leads to acute kidney injury. Left untreated, this can be life-threatening. In a small number of cases compartment syndrome has developed, requiring prompt surgical referral. Genetics
"GSDV is inherited in an autosomal recessive manner. At conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. "Two autosomal recessive forms of this disease occur, childhood-onset and adult-onset. The gene for myophosphorylase, PYGM (the muscle-type of the glycogen phosphorylase gene), is located on chromosome 11q13. According to the most recent publications, 95 different mutations have been reported. The forms of the mutations may vary between ethnic groups. For example, the R50X (Arg50Stop) mutation (previously referred to as R49X) is most common in North America and western Europe, and the Y84X mutation is most common among central Europeans.The exact method of protein disruption has been elucidated in certain mutations. For example, R138W is known to disrupt to pyridoxal phosphate binding site. In 2006, another mutation (c.13_14delCT) was discovered which may contribute to increased symptoms in addition to the common Arg50Stop mutation. Myophosphorylase
Structure
The myophosphorylase structure consists of 842 amino acids. Its molecular weight of the unprocessed precursor is 97 kDa. The three-dimensional structure has been determined for this protein.
Otomycosis  is a fungal ear infection, a superficial mycotic infection of the outer ear canal. It is more common in tropical countries. The infection may be either subacute or acute and is characterized by malodorous discharge, inflammation, pruritus, scaling, and severe discomfort. The mycosis results in inflammation, superficial epithelial exfoliation, masses of debris containing hyphae, suppuration, and pain. Diagnosis
Otoscopy (exam of the ear) is best done with a binocular microscope that provides adequate lighting, depth perception, and the ability to instrument the ear to comfortably remove the fungus. Findings range from scattered saprophytic fungal colonies of various colors, causing no symptoms, to densely packed fungal debris, often intermixed with cerumen (wax), filling the entire canal and involving the tympanic membrane (eardrum). The fungus can cling to the skin and tympanic membrane, presumably because of invading hyphae, and can require significant time to accomplish complete removal. Cause
Most fungal ear infections are caused by Aspergillus niger, Aspergillus fumigatus, Penicillium and Candida albicans.Otomycosis commonly results from overuse of antibacterial ear drops, which should never be used for more than 7 days. In such cases the fungus is an opportunist that results from antibacterial suppression of the normal bacterial flora, combined with the steroid the drops also contain. Signs and Symptoms
Otomycosis does not usually cause as much canal skin edema as does acute bacterial external otitis. While a severe pressure type of pain is a prominent feature of advanced cases, the ear is usually much less tender, if at all, to traction or tragal pressure.