Living with Progressive encephalopathy with leukodystrophy due to DECR deficiency
A rare genetic condition that starts in infancy with low muscle tone and affects the brain and development.
Understanding Progressive encephalopathy with leukodystrophy due to DECR deficiency
Early signs include low muscle tone (hypotonia) and too much acid in the blood from breathing problems (respiratory acidosis). GARD lists many other features, including developmental delay, seizures, stiff muscles, and eye movement problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone as a newborn (hypotonia)
- Delays in development
- Seizures
- Small head size (microcephaly)
- Stiff, tight muscles in the arms and legs (spastic quadriplegia)
- Slow weight gain (failure to thrive)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in NADK2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with FOD (Fatty Oxidation Disorder) Family Support Group and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists the NADK2 gene and says it is likely autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. The summary also mentions the DECR1 gene.
Also known as: 2,4-dienoyl-coa reductase deficiency; decr deficiency with hyperlysinemia; deficiency of 2,4-dienoyl-coa reductase; deficiency of 2,4-dienoyl-coenzyme a reductase
Patient organizations
- FOD (Fatty Oxidation Disorder) Family Support GroupProgressive encephalopathy with leukodystrophy due to DECR deficiency · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive encephalopathy with leukodystrophy due to DECR deficiency.
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