×

Please Remove Adblock
Adverts are the main source of Revenue for DoveMed. Please remove adblock to help us create the best medical content found on the Internet.

Neuronal Ceroid Lipofuscinosis 9

Last updated April 20, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Neuronal Ceroid Lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 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).


What are the other Names for this Condition? (Also known as/Synonyms)

  • CLN 9 (Neuronal Ceroid Lipofuscinosis 9)
  • CLN9-NCL

What is Neuronal Ceroid Lipofuscinosis 9? (Definition/Background Information)

  • Neuronal Ceroid Lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system
  • Signs and symptoms of the condition generally develop in early childhood (average age 4 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)
  • The underlying genetic cause of CLN9-NCL is unknown but it appears to be inherited in an autosomal recessive manner
  • Treatment options for Neuronal Ceroid Lipofuscinosis 9 are limited to therapies that can help relieve some of the symptoms

(Source: Neuronal Ceroid Lipofuscinosis 9; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Neuronal Ceroid Lipofuscinosis 9? (Age and Sex Distribution)

  • Neuronal Ceroid Lipofuscinosis 9 is a rare congenital disorder. The presentation of symptoms are seen in young children (about 4 years of age)
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Neuronal Ceroid Lipofuscinosis 9? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Neuronal Ceroid Lipofuscinosis 9 is an inherited condition
  • Currently, no other risk factors have been clearly identified for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Neuronal Ceroid Lipofuscinosis 9? (Etiology)

  • The underlying genetic cause of Neuronal Ceroid Lipofuscinosis 9 (CLN9-NCL) is unknown
  • But, it appears to be inherited in an autosomal recessive manner

(Source: Neuronal Ceroid Lipofuscinosis 9; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Neuronal Ceroid Lipofuscinosis 9?

The signs and symptoms of Neuronal Ceroid Lipofuscinosis 9 may include:

  • Ataxia
  • Cerebral atrophy
  • Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
  • Decreased light- and dark- adapted electroretinogram amplitude
  • Dysarthria
  • Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
  • Intellectual disability
  • Mutism
  • Optic atrophy
  • Progressive inability to walk
  • Progressive visual loss
  • Psychomotor deterioration
  • Rigidity
  • Rod-cone dystrophy
  • Scanning speech
  • Seizures
  • Vacuolated lymphocytes

(Source: Neuronal Ceroid Lipofuscinosis 9; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Neuronal Ceroid Lipofuscinosis 9 Diagnosed?

Neuronal Ceroid Lipofuscinosis 9 is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Neuronal Ceroid Lipofuscinosis 9?

The complications of Neuronal Ceroid Lipofuscinosis 9 may include:

  • Walking difficulties
  • Vision loss
  • Death in childhood is known to take place

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Neuronal Ceroid Lipofuscinosis 9 Treated?

There is no cure for Neuronal Ceroid Lipofuscinosis 9, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Neuronal Ceroid Lipofuscinosis 9 be Prevented?

Currently, Neuronal Ceroid Lipofuscinosis 9 may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Neuronal Ceroid Lipofuscinosis 9? (Outcomes/Resolutions)

  • The prognosis of Neuronal Ceroid Lipofuscinosis 9 is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Neuronal Ceroid Lipofuscinosis 9:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 20, 2018
Last updated: April 20, 2018