TYPE I MUCOLIPIDOSIS Meaning and
Definition
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Type I mucolipidosis, also known as sialidosis type I or cherry red spot myoclonus syndrome, is a rare autosomal recessive genetic disorder that affects lysosomal storage in the body. It is characterized by intracellular accumulation of sialyloligosaccharides and mucopolysaccharides due to the impaired activity of the enzyme neuraminidase.
Individuals with Type I mucolipidosis typically exhibit a range of symptoms including myoclonus (sudden, involuntary muscle jerks), ataxia (lack of muscle coordination), and dystonia (involuntary muscle contractions). Other common features include visual impairment, early-onset cataracts, skeletal abnormalities, and intellectual disability. One of the defining characteristics of this disorder is the appearance of a "cherry red spot" on the retina, which can be observed during an eye examination.
The diagnosis of Type I mucolipidosis is usually confirmed through genetic testing, which detects mutations in the NEU1 gene responsible for encoding neuraminidase. Due to its autosomal recessive inheritance pattern, both parents must carry a mutated gene in order for a child to be affected.
Currently, there is no cure for Type I mucolipidosis, and management primarily focuses on alleviating symptoms and providing supportive care. Physical therapy and occupational therapy may be beneficial in managing muscular and functional impairments. Regular ophthalmologic evaluations are essential to monitor and treat any visual complications. Genetic counseling is highly recommended to educate affected families about the risks and options for future pregnancies.
Common Misspellings for TYPE I MUCOLIPIDOSIS
- Type I Mecolipidoses
- rype i mucolipidosis
- fype i mucolipidosis
- gype i mucolipidosis
- yype i mucolipidosis
- 6ype i mucolipidosis
- 5ype i mucolipidosis
- ttpe i mucolipidosis
- tgpe i mucolipidosis
- thpe i mucolipidosis
- tupe i mucolipidosis
- t7pe i mucolipidosis
- t6pe i mucolipidosis
- tyoe i mucolipidosis
- tyle i mucolipidosis
- ty-e i mucolipidosis
- ty0e i mucolipidosis
- typw i mucolipidosis
- typs i mucolipidosis
- typd i mucolipidosis
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