<unk>  (AVM) consists of multiple rare genetic disorders with common histological and pathological features on muscle biopsy. The features highlighted are<unk>  membranes of the<unk>  vacuoles having sarcolemmal characteristics and an excess of<unk>  vacuoles. There are currently five types of AVM identified. The signs and symptoms become more severe over the course of the disease. It begins with an inability to pick up small objects and progresses to difficulty in walking. The age of onset varies from early childhood to late adulthood, affecting people of all ages. The disorders are caused by a mutation in different parts of the chromosome: Danon disease is caused by a mutation of the LAMP2 gene; XMEA is caused by mutations of the VMA21 gene. These gene mutations slow down the fusion between<unk>  vacuoles and lysosomes, leading to the accumulation of<unk>  vacuoles. The end result is the breakdown of muscle cells, which attributes to muscle weakness in patients suffering from AVM. The mode of transmission is X-linked, with Danon Disease being X-linked dominant and XMEA being X-linked recessive. Other types of AVM are less researched in terms of their mode of transmission, but it is known that these diseases are all gene-related. Diagnosis of AVM involves various types of genetic testing, alongside a thorough examination of the patient's history and symptoms. Treatment of the disease currently involves Enzyme Replacement Therapy and gene therapy is a possibility for the future, a solution which may cure the disease completely.
Autophagic vacuolar myopathy
Centronuclear myopathy
Hereditary inclusion body myopathy
Brody myopathy
Nemaline myopathy
Mitochondrial myopathy
X-linked myotubular myopathy
Metabolic myopathy