2,4-Dienoyl-CoA reductase deficiency

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Disease overview

Autosomal recessive condition marked by progressive encephalopathy with leukodystrophy due to DECR deficiency and associated with the DECR1 gene.

Common symptoms

Abnormal involuntary eye movementsaspiration pneumoniacerebellar atrophychoreoathetosisdystonialeukodystrophymicrocephaly

WHEN TO SUSPECT

  • Recommendation 1

    Biochemical analysis and lab/physical exam findings (dystonia, cerebellar atrophy, microcephaly)

HOW TO TEST

  • Recommendation 1

    Biochemical analysis and lab/physical exam findings (dystonia, cerebellar atrophy, microcephaly)

TREATMENT

  • Recommendation 1

    Supportive Treatment Only

PRIMARY CARE

  • Recommendation 1

    Appropriate specialist referral and mangement of acute symptoms

FURTHER SUPPORT

  • Recommendation 1

    United Leukodystrophy Foundation reccomends many physicians . 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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