Living with Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
A rare genetic brain and nerve condition starting in infancy with low muscle tone, lost skills, balance problems, and muscle wasting.
Understanding Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
It begins in the newborn or infant years with low muscle tone and developmental delay. Children then lose motor skills and develop muscle wasting in the hands and feet, poor balance, and stiff muscles. They have absent speech or trouble speaking clearly, and moderate to severe thinking difficulties. Brain scans show shrinking of the cerebellum, a thin corpus callosum, and iron buildup in the brain starting in the second decade of life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone
- Delays in development and loss of skills
- Muscle wasting in the hands and feet
- Poor balance with stiffness (spastic ataxia)
- Trouble speaking (dysarthria)
- Intellectual disability
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 TBCE 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
National Ataxia Foundation and The Foundation for Peripheral Neuropathy 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: National Ataxia Foundation, The Foundation for Peripheral Neuropathy
- 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 National Ataxia Foundation 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 says changes in the TBCE gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome.
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