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| Disease found: | UGDH Related Disorder |
| Current as of: | Thu Nov 21 2024 |
| Disease Overview: | UGDH mutation causing developmental delay, speech impairment, seizures, and intellectual disability [more info] |
| Signs and Symptoms: | Developmental delay, epilepsy, intellectual disability, dystonia, speech/language delay, spasticity, ataxia, chorea, tremor, feeding difficulties, drooling. Facial features (protruding ear lobes, ptosis, deep set eyes, short flat philtrum) [more info] |
| Diagnosis: | Genetic testing for UGDH mutation on epilepsy panel or whole genome sequencing (autosomal recessive inheritance). Diagnosis mainly clinical in child with epilepsy, developmental delay, intellectual disability, hypotonia, and feeding difficulties. [more info] |
| Treatment: | Symptomatic and anticipatory. No gene-specific treatment available.[more info] |
| Clinical Management: | Neurorehabilitative therapy (early intervention focus), speech and language therapy, feeding therapy, antiepileptics, ketogenic diet |
| Referral: | Commonly neurologists and medical geneticists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |