| Abstract | Metabolic myopathies are inborn errors of intermediate muscle metabolism, presenting either by exercise intolerance, or by progressive muscle weakness. Growing knowledge concerning the pathophysiology of these rare disorders, and the development of new technologies, opens new avenues for the treatment of this group of myopathies. Recent studies showed improvement in exercise capacity after regular aerobic exercise training in patients with McArdle's disease and mitochondrial myopathies. In late-onset Pompe disease enzyme replacement therapy trials with recombinant acid alpha-glucosidase (Myozyme) are currently in progress, the first trials conducted in childhood onset Pompe disease having previously shown a clear improvement in life expectancy and cardiac function. The demonstration that fibrates can induce correction of carnitine palmitoyl-transferase II deficiency in patients cells, lead to the development of an open-labelled therapeutic trial with bezafibrate in patients with CPTII deficiency, which is actually ongoing. |
| Authors | P Laforêt, M Nicolino, B Eymard
(Affiliation: Centre de référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris. pascal.laforet at psl.aphp.fr)
|
| Journal | Revue neurologique
(Rev Neurol (Paris))
Vol. 163
Issue 10
Pg. 930-5
(Oct 2007)
ISSN: 0035-3787 France |
| Vernacular Title | Nouveautés dans le traitement des myopathies métaboliques. |
| PMID | 18033029
(Publication Type: English Abstract, Journal Article, Review)
|
| Chemical References |
- Antilipemic Agents
- Bezafibrate
- Carnitine O-Palmitoyltransferase
|
| Topics |
- Antilipemic Agents
(therapeutic use)
- Bezafibrate
(therapeutic use)
- Carnitine O-Palmitoyltransferase
(deficiency)
- Glycogen Storage Disease
(genetics, metabolism, therapy)
- Humans
- Metabolism, Inborn Errors
(drug therapy, genetics, metabolism, therapy)
- Mitochondrial Myopathies
(genetics, metabolism, therapy)
- Muscular Diseases
(drug therapy, genetics, metabolism, therapy)
|
