What is Polyglucosan body myopathy?
Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene.
What are Lafora bodies?
Researchers have discovered that people with Lafora progressive myoclonus epilepsy have distinctive clumps called Lafora bodies within their cells. Lafora bodies are made up of an abnormal form of glycogen that cannot be broken down and used for fuel. Instead, it builds up to form clumps that can damage cells.
What does Apbd mean?
Adult polyglucosan body disease (APBD) is a condition that affects the nervous system.
What is PB disease?
Paucibacillary (PB), or tuberculoid, Hansen’s disease is characterized by one or a few hypopigmented or hyperpigmented skin macules that exhibit loss of sensation (anesthesia) due to infection of the peripheral nerves supplying the region.
Is there a cure for Lafora disease?
Unfortunately, there is currently no cure or way to slow the progression of Lafora disease. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to manage generalized seizures.
What are the symptoms of Lafora disease?
The first 2–3 years of Lafora disease are characterized by the following symptoms:
- Ataxia.
- Confusion.
- Depression.
- Grand mal seizures.
- Staring spells and/or absence seizures.
- Drop in school performance.
- Drop attacks.
- Myoclonus.
What is Fabry disease?
Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders.
How do u get leprosy?
Scientists have learned that to catch leprosy, a healthy person must have months of close contact with someone who has leprosy. It’s believed that the disease spreads when a person who has leprosy coughs or sneezes. When a healthy person repeatedly breathes in the infected droplets, this may spread the disease.
How does leprosy start?
The bacterium Mycobacterium leprae causes leprosy. It’s thought that leprosy spreads through contact with the mucosal secretions of a person with the infection. This usually occurs when a person with leprosy sneezes or coughs. The disease isn’t highly contagious.
How is lafora diagnosed?
Lafora Disease is diagnosed by conducting a series of tests by a neurologist, epileptologist (person who specializes in epilepsy), or geneticist. To confirm the diagnosis, an EEG, MRI, and genetic testing are needed. A biopsy may be necessary as well to detect and confirm the presence of Lafora bodies in the skin.
What is the body structure of Lafora disease?
Polyglucosan body structure in Lafora disease Abnormal carbohydrate structures known as polyglucosan bodies (PGBs) are associated with neurological disorders, glycogen storage diseases (GSDs), and aging. A hallmark of the GSD Lafora disease (LD), a fatal childhood epilepsy caused by recessive mutations in the EPM2A or EPM2B genes, are cytoplasm …
What are the symptoms of adult polyglucosan body disease?
Summary Summary. Adult polyglucosan body disease (APBD) affects the nervous system. People with this disease usually begin to show signs after the age of 40. Signs and symptoms include trouble walking due to peripheral neuropathy and muscle weakness and stiffness.
What are abnormal carbohydrate structures associated with GSD Lafora disease?
Abnormal carbohydrate structures known as polyglucosan bodies (PGBs) are associated with neurological disorders, glycogen storage diseases (GSDs), and aging. A hallmark of the GSD Lafora disease (LD), a fatal childhood epilepsy caused by recessive mutations in the EPM2A or EPM2B genes, are cytoplasm …
What are the glycogen molecules in Lafora disease?
Lafora bodies are aggregates of polyglucosans or abnormally shaped glycogen molecules. Glycogen in Lafora disease patients has abnormal chain lengths, which causes them to be insoluble, accumulate, and have a neurotoxic effect.