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| Disease found: | Adult Polyglucosan Body Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare, genetic disorder characterized by a deficiency of glycogen-branching enzyme. [more info] |
| Signs and Symptoms: | Urinary incontinence, paresthesia, spasticity and dementia. [more info] |
| Diagnosis: | Based upon a thorough clinical evaluation, identification of characteristic findings, a detailed patient history, and a variety of specialized tests. [more info] |
| Treatment: | Aimed at the specific symptoms present in each person. [more info] |
| Clinical Management: | Aimed at the specific symptoms present in each person. [more info] |
| Referral: | ~ 6 US-based physicians [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | ~ 5 trials [more info] |