At this time, there is no known cure for polyglucosan body myopathy type 2. However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle weakness, such as corticosteroids, and medications to help with pain, such as non-steroidal anti-inflammatory drugs (NSAIDs). Additionally, physical therapy and occupational therapy can help improve muscle strength and function.

1. Autosomal recessive inheritance: Polyglucosan body myopathy type 2 is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

2. Mutations in the GBE1 gene: Polyglucosan body myopathy type 2 is caused by mutations in the GBE1 gene. This gene provides instructions for making an enzyme called glycogen branching enzyme. This enzyme is involved in the breakdown of glycogen, a form of sugar stored in the body for energy. Mutations in the GBE1 gene reduce the activity of the enzyme, which leads to the buildup of abnormal polyglucosan

The primary treatment for Polyglucosan body myopathy type 2 is supportive care. This includes physical therapy, occupational therapy, and speech therapy to help maintain muscle strength and function. Other treatments may include medications to reduce muscle spasms, pain, and fatigue. In some cases, surgery may be recommended to help improve mobility. Additionally, a healthy diet and regular exercise can help to maintain muscle strength and function.

Polyglucosan body myopathy type 2 (PGBM2) is caused by mutations in the GBE1 gene. This gene provides instructions for making an enzyme called glycogen branching enzyme, which is involved in the breakdown of glycogen, a form of sugar stored in the body's cells. Mutations in the GBE1 gene lead to a decrease in the activity of the enzyme, which prevents the breakdown of glycogen and leads to the accumulation of polyglucosan bodies in muscle cells.

The symptoms of Polyglucosan body myopathy type 2 (also known as Lafora disease) vary from person to person, but typically include muscle weakness, muscle cramps, and difficulty walking. Other symptoms may include seizures, vision problems, and cognitive impairment. In some cases, people with Lafora disease may also experience difficulty swallowing, breathing problems, and cardiac arrhythmias.

Polyglucosan body myopathy type 2 (also known as Lafora disease) is a rare, inherited neuromuscular disorder that affects the muscles and nervous system. It is caused by a mutation in the EPM2A gene, which leads to the buildup of polyglucosan bodies in the muscles and other tissues. Symptoms typically begin in childhood and include muscle weakness, seizures, and progressive loss of vision. There is currently no cure for Lafora disease, but treatments are available to help manage symptoms.