Autophagic Vacuolar Myopathy
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 infection. 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 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.
Q12136
genetic disorders
Concept
Q7168
histological
Concept
Q7208
pathological
Concept
Q2094702
muscle biopsy
Concept
Q288322
autophagic vacuoles
Concept
Q1545001
sarcolemmal
Concept
Q7569
childhood
Concept
Q80994
adulthood
Concept
Q12136
disorders
Concept
Q42918
mutation
Concept
Q37748
chromosome
Concept
Q5220984
Danon disease
Concept
Q18028468
LAMP2 gene
MISC
Q3456637
XMEA
Concept
Q288322
autophagic vacuoles
Concept
Q83330
lysosomes
Concept
Q1142188
X-linked
Concept
Q3731276
X-linked dominant
Concept
Q1988987
X-linked recessive
Concept
Q285223
genetic testing
Concept
Q916766
Enzyme Replacement Therapy
Concept
Q213901
gene therapy
Concept
Q63874868
Autophagic Vacuolar Myopathy
DIS
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2
NUMBER
+21^^http://www.w3.org/2001/XMLSchema#decimal
21
NUMBER
genetic association