About The Medical Condition Pompes Disease
Find the definition of the medical term Pompes Disease. Pompes Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Pompes Disease
| Pompes Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Pompes Disease?
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
- ATRC2 Transporter ‐ A high-affinity, low capacity system y+ amino acid transporter…
- Serology ‐ The study of serum, especially of antigen-antibody reactions…
- Sexual Unions, Visiting ‐ Sexual activities…
- Hydroxyanisole, Butylated ‐ Mixture of 2- and 3-tert-butyl-4-methoxyphenols that is used…
- Status Epilepticus, Complex Partial ‐ A prolonged seizure or seizures repeated frequently enough to…
- Electroconvulsive Shock ‐ Induction of a stress reaction in experimental subjects by means…
- Moving, Health Facility ‐ The relocation of health care institutions or units thereof.…
- Sleep Walking ‐ A parasomnia characterized by a partial arousal that occurs during…
- Shiner ‐ A family of freshwater fish comprising the minnows…
- Ganglionic Blocking Agents ‐ Agents having as their major action the interruption of neural…