ZC4H2-Associated Rare Disorders (ZARD)

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

Ultra-rare genetic condition with central and peripheral nervous system involvement caused by harmful mutations of the ZC4H2 gene.

Common symptoms

Contractures and deformities of foot jointsmuscle degenerationmild intellectual disabilityspasticityand seizures.

WHEN TO SUSPECT

  • Recommendation 1

    Genetic analysis showing ZC4H2 gene deletion

HOW TO TEST

  • Recommendation 1

    Genetic analysis showing ZC4H2 gene deletion

TREATMENT

  • Recommendation 1

    Symptomatic care

PRIMARY CARE

  • Recommendation 1

    Symptomatic care

FURTHER SUPPORT

  • Recommendation 1

    Medical team of internists and pediatricians should include a genetic counselor. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

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