Living with Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
A rare genetic nervous system condition with developmental delay, vision problems, low muscle tone, and slow loss of cerebellum tissue.
Understanding Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Developmental delay and speech problems range from mild to severe. There is low muscle tone in the trunk (truncal hypotonia) and vision problems, including cortical visual impairment. The brain slowly shrinks, mainly the cerebellum. Other findings may include stiff limbs, scoliosis, a small head, and facial differences. It usually starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development and speech
- Low trunk muscle tone (hypotonia)
- Vision problems
- Shrinking of the cerebellum and brain over time
- Stiff muscles in the arms or legs
- Scoliosis (curved spine)
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in EMC1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 EMC1 gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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Perspectives from people navigating life with Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome.
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