What is Sialuria?
Sialuria is a rare disorder that has variable effects on development. Affected infants are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia).
What are the symptoms of Salla disease?
Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis).
What causes Salla disease?
SD is caused by a mutation in the SLC17A5 gene, located at human chromosome 6q14-15. This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.
What is Nonaka myopathy?
Summary. GNE myopathy, also known as HIBM, Nonaka myopathy, IBM2 and distal myopathy with rimmed vacuoles, is a genetic disorder that affects primarily the skeletal muscles (muscles that the body uses to perform daily physical activity).
What is Mucolipidosis?
Definition. The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells.
What is the treatment for Sandhoff disease?
There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures.
Is there a cure for Sandhoff disease?
There is no specific treatment or cure for Sandhoff disease. Management is symptomatic and supportive. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may be used to control seizures .
What is Danon disease?
Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy ); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected.
What is Hibm?
HIBM (Hereditary Inclusion Body Myopathies) are a group of genetic disorders , which are uncommon in the general world population. HIBM causes progressive muscle wasting and weakness that can lead to severe disability.