Autophagic vacuolar myopathy (AVM) consists of multiple rare genetic disorders with common histological and pathological features on muscle biopsy. The features highlighted are vacuolar membranes of the autophagic vacuoles having sarcolemmal characteristics and an excess of autophagic 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.
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| - Miopatia centronuclear lligada al cromosoma X (ca)
- Autophagic vacuolar myopathy (en)
- Miopatía centronuclear ligada al cromosoma X (es)
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| - La miopatia centronuclear lligada al cromosoma X (l'acrònim usual de la qual és XLCNM, de l'anglès X-linked centronuclear myopathy), també coneguda com a miopatia miotubular (XLMTM, de l'anglès X-linked myotubular myopathy), és una malaltia que afecta el múscul esquelètic i provoca feblesa muscular. És causada per una mutació al gen MTM1 situat al cromosoma X humà i afecta gairebé en exclusiva a homes. S'estima que es presenta 1 cas per cada 50 000 nounats homes. (ca)
- La miopatía centronuclear ligada al cromosoma X (cuyo acrónimo usual es XLCNM, del inglés X-linked centronuclear myopathy), también conocida como miopatía miotubular (XLMTM, del inglés X-linked myotubular myopathy), es una enfermedad que afecta al músculo esquelético y provoca debilidad muscular. Está causada por una mutación en el gen MTM1 situado en el cromosoma X humano y afecta casi en exclusiva a varones. Se estima que se presenta 1 caso por cada 50 000 recién nacidos varones. (es)
- Autophagic vacuolar myopathy (AVM) consists of multiple rare genetic disorders with common histological and pathological features on muscle biopsy. The features highlighted are vacuolar membranes of the autophagic vacuoles having sarcolemmal characteristics and an excess of autophagic 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. (en)
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| - La miopatia centronuclear lligada al cromosoma X (l'acrònim usual de la qual és XLCNM, de l'anglès X-linked centronuclear myopathy), també coneguda com a miopatia miotubular (XLMTM, de l'anglès X-linked myotubular myopathy), és una malaltia que afecta el múscul esquelètic i provoca feblesa muscular. És causada per una mutació al gen MTM1 situat al cromosoma X humà i afecta gairebé en exclusiva a homes. S'estima que es presenta 1 cas per cada 50 000 nounats homes. (ca)
- Autophagic vacuolar myopathy (AVM) consists of multiple rare genetic disorders with common histological and pathological features on muscle biopsy. The features highlighted are vacuolar membranes of the autophagic vacuoles having sarcolemmal characteristics and an excess of autophagic 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 autophagic vacuoles and lysosomes, leading to the accumulation of autophagic vacuoles. The result is the breakdown of muscle cells, which attributes to muscle weakness in patients with 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. (en)
- La miopatía centronuclear ligada al cromosoma X (cuyo acrónimo usual es XLCNM, del inglés X-linked centronuclear myopathy), también conocida como miopatía miotubular (XLMTM, del inglés X-linked myotubular myopathy), es una enfermedad que afecta al músculo esquelético y provoca debilidad muscular. Está causada por una mutación en el gen MTM1 situado en el cromosoma X humano y afecta casi en exclusiva a varones. Se estima que se presenta 1 caso por cada 50 000 recién nacidos varones. (es)
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