Page last updated: 2024-11-08

amifampridine and Glycogen Storage Disease Type II

amifampridine has been researched along with Glycogen Storage Disease Type II in 1 studies

Amifampridine: 4-Aminopyridine derivative that acts as a POTASSIUM CHANNEL blocker to increase release of ACETYLCHOLINE from nerve terminals. It is used in the treatment of CONGENITAL MYASTHENIC SYNDROMES.

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)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Bragato, C1
Blasevich, F1
Ingenito, G1
Mantegazza, R1
Maggi, L1

Other Studies

1 other study available for amifampridine and Glycogen Storage Disease Type II

ArticleYear
Therapeutic efficacy of 3,4-Diaminopyridine phosphate on neuromuscular junction in Pompe disease.
    Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2021, Volume: 137

    Topics: alpha-Glucosidases; Amifampridine; Animals; Behavior, Animal; Embryo, Nonmammalian; Glycogen Storage

2021