Pontocerebellar hypoplasia

From WikiMD.org
Jump to navigation Jump to search

Pontocerebellar Hypoplasia

Pontocerebellar hypoplasia (pronunciation: pon-toh-ser-uh-bel-lar hy-po-pla-zee-uh) is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons, which is located at the base of the brain, is responsible for relaying signals between the brain and the spinal cord. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.

Etymology

The term "pontocerebellar" is derived from Latin and Greek roots. "Ponto-" comes from the Latin "pons," meaning "bridge," and "-cerebellar" comes from the Latin "cerebellum," meaning "little brain." "Hypoplasia" is derived from the Greek "hypo-," meaning "under," and "-plasia," meaning "formation."

Types

There are several types of pontocerebellar hypoplasia, which are distinguished by their genetic cause and their signs and symptoms. The most common types are Type 1, Type 2, and Type 3.

Symptoms

Symptoms of pontocerebellar hypoplasia can vary widely, depending on the type. Common symptoms include significant developmental delay, difficulty with movements, and intellectual disability. Some people with pontocerebellar hypoplasia may also have seizures, vision or hearing problems, or other neurological problems.

Causes

Pontocerebellar hypoplasia is caused by mutations in several different genes. These mutations are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of pontocerebellar hypoplasia is based on the clinical symptoms, imaging studies of the brain, and genetic testing.

Treatment

There is currently no cure for pontocerebellar hypoplasia. Treatment is supportive and based on the symptoms in each individual.

See Also

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski