About The Medical Condition Adult Glycogen Storage Disease Type II
Find the definition of the medical term Adult Glycogen Storage Disease Type II. Adult Glycogen Storage Disease Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Adult Glycogen Storage Disease Type II
| Adult Glycogen Storage Disease Type II Medical Condition |
|---|
What's The Definition Of The Medical Condition Adult Glycogen Storage Disease Type II?
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE DEFICIENCY. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes,Textbook of Child Neurology, 5th ed, pp73-4)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- SDZ 202-250 ‐ The principal alkaloid in opium and the prototype opiate analgesic…
- Transmission, Neural ‐ The communication from a neuron to a target (neuron, muscle,…
- Investigational New Drug Application ‐ An application that must be submitted to a regulatory agency…
- Negligence ‐ Failure of a professional person, a physician or lawyer, to render…
- Betatrons ‐ Devices which accelerate electrically charged atomic or subatomic…
- Technology, Reproductive ‐ Methods pertaining to the generation of new individuals, including…
- Capital Punishments ‐ The use of the death penalty for…
- Cerebral Ventricle Tumor ‐ Neoplasms located in the brain ventricles, including the two…
- Virus, Nipah ‐ A subfamily of PARAMYXOVIRIDAE. Genera include RUBULAVIRUS, RESPIROVIRUS,…
- Dreams, Day ‐ An imagined sequence of events or mental images, e.g.,…