Living with Spinal atrophy-ophthalmoplegia-pyramidal syndrome
A very rare genetic nerve and muscle condition present from birth with low muscle tone, hearing loss and eye muscle weakness.
Understanding Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Babies have low muscle tone from birth. Weakness slowly worsens, and it comes with stiffness signs, deafness, eye muscle weakness (ophthalmoplegia) and widened pupils. GARD notes there have been no further descriptions in the medical literature since 1994.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Low muscle tone from birth
- Slowly worsening muscle weakness
- Hearing loss
- Weak eye muscles (ophthalmoplegia)
- Widened pupils
- Muscle stiffness signs
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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
GARD says changes in genes cause this condition, but it doesn't list a gene or how it is inherited.
Also known as: hamano tsukamoto syndrome; hamano-tsukamoto syndrome; spinal atrophy, ophthalmoplegia, pyramidal 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
You are more than your diagnosis
Perspectives from people navigating life with Spinal atrophy-ophthalmoplegia-pyramidal syndrome.
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