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Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Source: GARD Last updated on 05-01-20
The current treatment for neuronal ceroid lipofuscinosis is symptomatic and supportive. 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.
Future treatments may involve stem cell transplantation, enzyme replacement, gene therapy, and/or immune therapy.
Last updated on 05-01-20
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