"V体育安卓版" Neuroacanthocytosis

"V体育官网入口" What is neuroacanthocytosis?

Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated or star-shaped red blood cells). VSports最新版本.

Four syndromes are classified as neuroacanthocytosis:

1. Chorea-acanthocytosis
2. McLeod syndrome
3. Huntington's disease-like 2 (HDL2)
4. Panthothenate kinase-associated neurodegeneration (PKAN)

These disorders are caused by different genetic mutations (defects) VSports注册入口. Acanthocytosis may not always be observed in HDL2 and PKAN. The signs and symptoms vary and may include:.

Individuals with McLeod syndrome often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a part of the brain that controls movement V体育官网入口.

Neuroacanthocytosis typically is diagnosed based on symptoms and clinical observation, review of family history, and evaluation of specific laboratory and imaging studies.

There are currently no treatments to prevent or slow the progression of neuroacanthocytosis. Treatment is symptomatic and supportive V体育2025版. Medications may be prescribed to decrease the involuntary movements. Botulinum toxin injections usually improve symptoms of dystonia. A feeding tube may be needed for individuals with feeding difficulties. Seizures may be treated with a variety of anticonvulsants, and antidepressants may also be appropriate for some individuals. Speech, occupational, and physical therapy may also be beneficial.

Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia.

How can I or my loved one help improve care for people with neuroacanthocytosis?

Consider participating in a clinical trial so clinicians and scientists can learn more about neuroacanthocytosis and related disorders.  Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease VSports app下载. .

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them. V体育官网.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with neuroacanthocytosis at Clinicaltrials.gov.