amifampridine has been researched along with Muscular Dystrophy, Facioscapulohumeral 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.
Muscular Dystrophy, Facioscapulohumeral: An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Gene analysis for congenital myasthenic syndrome (CMS) revealed a new mutation in the DOK7 gene; the diagnosis of CMS was confirmed." | 1.40 | [Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy]. ( Mori-Yoshimura, M; Murata, M; Nakata, T; Nishikawa, A; Ohno, K; Okamoto, T; Oya, Y, 2014) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Nishikawa, A | 1 |
| Mori-Yoshimura, M | 1 |
| Okamoto, T | 1 |
| Oya, Y | 1 |
| Nakata, T | 1 |
| Ohno, K | 1 |
| Murata, M | 1 |
1 other study available for amifampridine and Muscular Dystrophy, Facioscapulohumeral
| Article | Year |
|---|---|
[Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].
Topics: 4-Aminopyridine; Adult; Amifampridine; Diagnosis, Differential; Female; Humans; Menstrual Cycle; Mus | 2014 |