Glycogen storage disease type V (GSD5, GSD-V), also known as McArdles disease, is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type I.The disease was first reported in 1951 by Dr. Brian McArdle of Guys Hospital, London. Signs and symptoms
The onset of this disease is usually noticed in childhood, but often not diagnosed until the third or fourth decade of life. Symptoms include exercise intolerance with muscle pain, early fatigue, painful cramps, inappropriate rapid heart rate response to exercise, and may include myoglobin in the urine (often provoked by a bout of exercise). "In McArdles, our heart rate tends to increase in what is called an inappropriate response. That is, after the start of exercise it increases much more quickly than would be expected in someone unaffected by McArdles." Myoglobinuria may be seen due to the breakdown of skeletal muscle known as rhabdomyolysis, a condition in which muscle cells breakdown, sending their contents into the bloodstream.
Childhood absence epilepsy (CAE), is one of the most frequent pediatric epilepsy syndromes. CAE is an idiopathic generalized epilepsy that occurs in otherwise normal children. The only seizure type at the time of diagnosis is the typical absence seizure. CAE is a well-known pediatric epilepsy syndrome affecting 10–17% of all children with epilepsy. It was previously known as pyknolepsy. The word pyknolepsy originates from the Greek piknoz (picnós), which means recurrent or grouped. The usual age of onset of CAE is between 4 and 10 years, with peak between 5 and 7 years.The typical absence seizure has a sudden onset of altered awareness and ends also abruptly. Electroencephalogram demonstrate characteristic "typical 3Hz spike-wave" generalized rhythmic discharges that begin and end abruptly. Prognosis is generally good with fair rates of response to treatment and with most patients growing out of their absencese. However, learning difficulties and seizure occurrence rates remain higher than the general population even after several years. When typical absence seizures start the age of 8– 9 years old when the absence seizures are infrequent or when the absence seizures are observed in a patient that had experienced a generalized tonic-clonic seizure, a diagnosis of juvenile absence epilepsy should be considered. Signs and symptoms
CAE is characterized by the presence of absence seizures. The absence seizures are usually brief (about 4 to 30 seconds) but occur frequently, usually around a dozen per day but sometimes even hundreds of times per day.