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Pregledni rad

Marina Blažević ; Opća bolnica Pula, Djelatnost za neurologiju
Dubravko Marković ; Opća bolnica Pula, Djelatnost za neurologiju
Leo Pažanin ; Zavod za patologiju “Ljudevit Jurak”, Zagreb

Puni tekst: hrvatski pdf 1.223 Kb

str. 12-18

preuzimanja: 11.890



Although new diagnostic methods have been developed, unfortunately no causal treatment of inherited neuromuscular
diseases exists so far. However, there have been numerous new findings in this area in the last ten years. For example,
it has been found that genes mutated in family cases of amiotrophic lateral sclerosis are the SOD1 gene, senataxin (SETX
or ALS4), ALS2 gene, vesicle associated protein B (VAPB), NEFH and ALS8. Riluzole is still used in the treatment of ALS. In
the treatment of muscular dystrophy in mouse models another potential form of future gene therapy has been demonstrated.
It is called treatment with “booster genes”. Numerous genes that cause different forms of Charcot-Marie-Tooth disease
have been discovered. The genetic-molecular analysis confirms the disease. The treatment of the disease is symptomatic,
but as a possible future treatment option ascorbic acid and antagonists of the progesterone receptors is mentioned. More
recently a new group of diseases that are classified as neuromuscular diseases was described. This group includes diseases
of ion channels, which are also known as channelopathies. It was proven that this group of diseases is caused by mutations
of chloride, calcium, sodium and potassium ion channels. Episodic ataxia type 1 and 2, hyperkaliemic periodic paralysis,
familial hemiplegic migraine and malignant hyperthermia are just some of channelopathies.

Ključne riječi

neuromuscular diseases, classification, genetics

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Podaci na drugim jezicima: hrvatski

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