Neuronal ceroid lipofuscinosis 9
Alternate names[edit | edit source]
CLN 9
Definition[edit | edit source]
Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system.
Onset[edit | edit source]
Signs and symptoms of the condition generally develop in early childhood (average age 4 years).
Cause[edit | edit source]
The underlying genetic cause of CLN9-NCL is unknown.
Inheritance[edit | edit source]
It appears to be inherited in an autosomal recessive manner.
Signs and symptoms[edit | edit source]
Signs and symptoms 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).
Diagnosis[edit | edit source]
Treatment[edit | edit source]
Treatment options are limited to therapies that can help relieve some of the symptoms.
NIH genetic and rare disease info[edit source]
Neuronal ceroid lipofuscinosis 9 is a rare disease.
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