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| Disease found: | Adult Neuronal Ceroid Lipofuscinosis |
| Current as of: | October 8, 2024 |
| Disease Overview: | A group of progressive, degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). [more info] |
| Signs and Symptoms: | Type A is associated with progressive myoclonic epilepsy, ataxia or dysarthria. Type B is associated with ataxia, tics or tremors, facial dyskinesia and dementia. [more info] |
| Diagnosis: | Identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. [more info] |
| Treatment: | Directed towards the specific symptoms that are apparent in each individual. [more info] |
| Clinical Management: | Directed towards the specific symptoms that are apparent in each individual. [more info] |
| Referral: | ~ 10 US-based physicans [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | ~ 10 trials [more info] |