What are the effects of Fucosidosis?
Fucosidosis results in progressive neurological deterioration, skin abnormalities, growth retardation, skeletal disease and coarsening of facial features.
What are symptoms of Fucosidosis?
What are the symptoms of fucosidosis?
- intellectual disability.
- delay in motor skills development.
- impaired or slow growth (failure to thrive)
- abnormal skeletal development (dysostosis multiplex)
- seizures.
- abnormal muscle contractions (spasticity)
- distinctive facial features (coarse facial features)
What are the symptoms of Schindler disease?
Schindler disease type III, is an intermediate form the disorder. Symptoms can range from more serious intellectual impairment, neurological dysfunction and seizures to milder neurological and psychiatric issues such as speech and language delays and mild autism-like symptoms.
How does Krabbe disease affect the body?
Krabbe (KRAH-buh) disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system. In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2.
Is Sialidosis inherited?
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
What is Kanzaki disease?
Schindler disease type II, also called Kanzaki disease, is a milder form of the disorder that usually appears in adulthood. Affected individuals may develop mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss).
What happens when lysosomes are damaged?
When lysosomes don’t work properly, these sugars and fats build up in the cell instead of being used or excreted. Lysosomal storage diseases are rare, but can lead to death if untreated.
Does Krabbe affect the brain?
People with Krabbe disease have a deficiency of galactosylceramidase production, which results in extensive degeneration of the myelin sheaths surrounding nerves in the brain. Without this myelin protection, cells in the brain will degenerate, and the body’s nervous system won’t work properly.