Adult Neuronal Ceroid Lipofuscinosis

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Disease overview

A group of progressive, degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs).

Common symptoms

Type A is associated with progressive myoclonic epilepsyataxia or dysarthria. Type B is associated with ataxiatics or tremorsfacial dyskinesia and dementia. [ ]

WHEN TO SUSPECT

  • Recommendation 1

    Identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

HOW TO TEST

  • Recommendation 1

    Identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

TREATMENT

  • Recommendation 1

    Directed towards the specific symptoms that are apparent in each individual.

PRIMARY CARE

  • Recommendation 1

    Directed towards the specific symptoms that are apparent in each individual.

FURTHER SUPPORT

  • Recommendation 1

    ~ 10 US-based physicans . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    ~ 10 trials

Sources

No data available

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