Primary care
Recommendation 1
Directed towards the specific symptoms that are apparent in each individual.
Adult Neuronal Ceroid Lipofuscinosis
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
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
Clinical Trials
Sources
No data available
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