Living with Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
A rare genetic brain condition with a small head from birth, seizures that are hard to treat, and profound developmental delay.
Understanding Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Seizures start from the newborn period to infancy and are hard to treat. Imaging shows loss of tissue in the cerebral cortex and cerebellum. Developmental delay is profound. Muscle tone can be low or high, and vision and eye movement problems can occur. Episodes of sudden extreme agitation may be brought on by serious illness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Low muscle tone (hypotonia)
- Hard-to-treat seizures
- Profound developmental delay
- Distinct facial features
- Vision and eye movement problems
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in QARS1 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy 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 CureARS 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
Changes in the QARS1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome; microcephaly, progressive, seizures, and cerebral and cerebellar atrophy; microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
Patient organizations
- CureARSDiffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome.
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