There are two major approaches to treating<unk> : Enzyme Replacement Therapy (ERT) to compensate for the deficiency of the original enzyme by adding exogenous enzyme; and gene therapy to replace or add genes to the body so that the body can produce the required protein. ERT has been the main form of treatment though its effect is temporary. While gene therapy could be the ultimate cure, it is still under active research and more time is required before it can be applied to patients of AVM. Enzyme replacement therapy (ERT) Enzyme Replacement Therapy has been used to treat Pompe disease. Since Pompe disease is caused by the deficiency of the enzyme acid alpha-glucosidase, the injection of the enzyme would alleviate the symptoms caused the disease. The functional enzyme is produced by genetically modified cells in the laboratory. It is then harvested, purified and eventually injected into the patient's body. With this enzyme, the body will be able to convert glycogen to glucose, providing the body with energy and thus alleviating the problem of energy deficiency in the muscles and heart. However, the exogenous enzyme might induce the production of neutralising antibodies, so immunosuppressive drugs are often consumed simulataneously to reduce the number of neutralising antibodies and prevent the exogenous enzyme from exerting its effect. A major limitation of ERT is that injections are needed routinely, meaning that ERT may not be a permanent cure since it can only improve the patient's muscle strength in the short term. Another constraint is that the enzyme is unable to cross the blood-brain barrier, meaning that ERT is unable to correct the neurological symptoms of the disease. Despite the clear clinical benefits, some side effects from ERT are exhibited. These included mild allergic reactions towards the enzyme, which may snowball into anaphylaxis, a life-threatening allergy. Other side effects are headaches, nausea, vomiting, chest discomfort and abnormal blood pressure. Gene therapy AVM are genetic diseases caused by mutations of the genes. In this way, AVM can be addressed with gene therapy. Gene therapy starts with the repairing or replacement of the gene that causes the disease. If this does not work, additional genes will be inserted into the body to address the mutated gene. Danon Disease, the most common form of AVM, could possibly be cured by adeno-associated virus 9 (AAV9)–mediated gene therapy. Clinical studies on mice with the mutated LAMP2 gene have shown that the injection of the normal human LAMP2B gene into Lamp2 knockout mice actually managed to cure the mice from Danon disease. This method could be a permanent solution since the gene would be able to generate the protein needed and normal functions of the protein would be restored. Nevertheless, this method has not yet been trialed on human subjects so it needs further clinical trials to show its validity. The same concept could be applied to other AVM, targeting different gene mutations by introducing the normal version of the mutated gene.
Autophagic vacuolar myopathy
Centronuclear myopathy
Hereditary inclusion body myopathy
Brody myopathy
Nemaline myopathy
Mitochondrial myopathy
X-linked myotubular myopathy
Metabolic myopathy