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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neuronal ceroid lipofuscinosis 7


Other Names for this Disease
  • CLN7
  • CLN7 disease, late infantile
  • CLN7 disease
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Treatment

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How might neuronal ceroid lipofuscinosis 7 be treated?

The current treatment for neuronal ceroid lipofuscinosis is symptomatic and supportive.[1][2] Seizures, anxiety, sleep disorders, and spasticity may be treated with benzodiazepines. Trihexyphenydil may help improve dystonia, Parkinsonian symptoms, and sialorrhea. Individuals who have difficulty swallowing may benefit from the placement of a gastric (G) tube. Certain medications (carbamazepine, phenytoin, lamotrigine) should be avoided as they can exacerbate symptoms of the condition.[1]

Future treatments may involve stem cell transplantation, enzyme replacement, gene therapy, and/or immune therapy.[1][2]
Last updated: 4/27/2016

References
  1. Sara E Mole, PhD and Ruth E Williams, MD. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 2013; http://www.ncbi.nlm.nih.gov/books/NBK1428/.
  2. Celia H Chang, MD. Neuronal Ceroid Lipofuscinoses. Medscape Reference. December 14, 2015; http://emedicine.medscape.com/article/1178391-overview.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Other Names for this Disease
  • CLN7
  • CLN7 disease, late infantile
  • CLN7 disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.