Infantile neuroaxonal dystrophy
(Redirected from Seitelberger disease)
Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disorder that primarily affects the nervous system. It is characterized by a progressive loss of vision, mental and movement abilities.
Symptoms[edit | edit source]
The symptoms of INAD usually begin in early infancy, typically between the ages of 6 months and 3 years. Early signs may include delays in physical and mental development, such as sitting, standing, and walking or learning to talk. As the disorder progresses, affected children may lose previously acquired skills (developmental regression), develop an abnormal body posture with the head and neck bent backward (opisthotonus), and become unable to move, eat, and breathe on their own.
Causes[edit | edit source]
INAD is caused by mutations in the PLA2G6 gene. This gene provides instructions for making an enzyme that is found throughout the body, but is particularly abundant in the brain. The enzyme is involved in the metabolism of certain fats, and it also plays a role in the survival of nerve cells (neurons).
Diagnosis[edit | edit source]
Diagnosis of INAD is based on the observation of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include magnetic resonance imaging (MRI), nerve conduction studies, and molecular genetic testing.
Treatment[edit | edit source]
There is currently no cure for INAD, and treatment is symptomatic and supportive. Physical therapy may help to relieve some of the symptoms. In some cases, medication may be used to manage seizures or other symptoms.
Prognosis[edit | edit source]
The prognosis for individuals with INAD is poor. Most children with this disorder do not survive past childhood, typically living only into the first or second decade of life.
See Also[edit | edit source]
References[edit | edit source]
- National Institute of Neurological Disorders and Stroke
- Genetics Home Reference
- National Organization for Rare Disorders
| Infantile neuroaxonal dystrophy Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
