Neuroaxonal dystrophy, infantile
- Infantile neuroaxonal dystrophy
- Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy
- KARAK SYNDROME, INCLUDED
Your QuestionCan you tell me more about neuroaxonal dystrophy, infantile? I think my friend's daughter might have this condition.
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Atypical disease is more variable. Onset tends to be in early childhood. Signs and symptoms may include difficulty walking or ataxia, speech delay, and autistic features. The course is fairly stable during early childhood but progressively worsens between the ages of 7 and 12 years.
If your friend is concerned that her daughter may have this condition, we recommend that she discuss her concerns with a physician. She may also find it helpful to have her daughter evaluated by a genetics professional.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- McGovern MM. Lipid storage disorders. eMedicine. 2009; http://emedicine.medscape.com/article/945966-overview. Accessed 7/14/2009.
- Infantile neuroaxonal dystrophy. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=infantileneuroaxonaldystrophy. Accessed 7/14/2009.
- Gregory A, Hayflick SJ. Infantile neuroaxonal dystrophy. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=inad. Accessed 7/14/2009.