Primary care
Recommendation 1
Neurorehabilitative therapy (early intervention focus), speech and language therapy, feeding therapy, antiepileptics, ketogenic diet
UGDH Related Disorder
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
UGDH mutation causing developmental delay, speech impairment, seizures, and intellectual disability
Common symptoms
Developmental delayepilepsyintellectual disabilitydystoniaspeech/language delayspasticityataxiachoreatremorfeeding difficultiesdrooling. Facial features (protruding ear lobesptosisdeep set eyesshort flat philtrum)
When to suspect
Recommendation 1
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.
How to test
Recommendation 1
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.
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
Symptomatic and anticipatory. No gene-specific treatment available.
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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