VLDLR-associated cerebellar hypoplasia
VLDLR-associated cerebellar hypoplasia (pronunciation: vee-el-dee-el-ar associated ser-uh-bell-ar hy-po-pla-zee-uh) is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that coordinates movement.
Etymology
The term "VLDLR-associated cerebellar hypoplasia" is derived from the name of the gene that is mutated in this disorder, the Very Low Density Lipoprotein Receptor (VLDLR) gene, and the medical term "cerebellar hypoplasia", which refers to underdevelopment or incomplete development of the cerebellum.
Symptoms
The symptoms of VLDLR-associated cerebellar hypoplasia can vary, but often include motor skill difficulties, intellectual disability, and delayed speech and language development. Some individuals may also have eye abnormalities and seizures.
Causes
VLDLR-associated cerebellar hypoplasia is caused by mutations in the VLDLR gene. This gene provides instructions for making a protein that is important for the development and maintenance of the nervous system.
Diagnosis
Diagnosis of VLDLR-associated cerebellar hypoplasia is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis.
Treatment
There is currently no cure for VLDLR-associated cerebellar hypoplasia. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy.
Related Terms
- Cerebellar Hypoplasia
- Genetic Disorder
- Mutation
- Nervous System
- Motor Skills
- Intellectual Disability
- Delayed Speech and Language Development
- Eye Abnormalities
- Seizures
External links
- Medical encyclopedia article on VLDLR-associated cerebellar hypoplasia
- Wikipedia's article - VLDLR-associated cerebellar hypoplasia
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