ERT for late-onset Pompe disease

• April 28th, 2010

van der Ploeg AT et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010 Apr 15;362(15):1396-406

In this study, alglucosidase alfa resulted in improved walking distance and stabilization of pulmonary function for patients with late-onset Pompe’s disease.

posted by Philippe Campeau

Congenital myasthenic syndromes

• October 26th, 2006

Science. 2006 Sep 29;313(5795):1975-8.

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y.

A new gene involved in a congenital myasthenic syndrome, in this case with proximal muscle weakness, has been identified. It was found earlier this year that dok-7 knock-out mice could not form acetylcholine receptor clusters nor neuromuscular synapses.

Science 23 June 2006 312: 1802-1805

The Muscle Protein Dok-7 Is Essential for Neuromuscular Synaptogenesis

Kumiko Okada, Akane Inoue, Momoko Okada, Yoji Murata, Shigeru Kakuta, Takafumi Jigami, Sachiko Kubo, Hirokazu Shiraishi, Katsumi Eguchi, Masakatsu Motomura, Tetsu Akiyama, Yoichiro Iwakura, Osamu Higuchi, and Yuji Yamanashi
 

The next step was to screen patients with congenital mysthenic syndromes for mutations in the gene encoding dok-7.
For a review of congenital mysthenic syndromes, see this article by Andrew Engel:

Curr Opin Pharmacol. 2005 Jun;5(3):308-21.

Current understanding of congenital myasthenic syndromes.

Engel AG, Sine SM
 

For a review of channelopathies, please see chapter 204 of OMMBID.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator