Living with Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
A rare genetic muscle disease from birth or childhood with slowly worsening weakness mostly in the legs, a curved spine, and tongue changes.
Understanding Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
It starts from birth to childhood. People have muscle weakness and wasting mainly in the legs, joint contractures, a curved spine, shrinking at the sides of the tongue, and tight ankles. Some later have upper limb weakness, facial weakness, language problems, intellectual disability, or behavior changes.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Slowly worsening muscle weakness, mostly in the legs
- Muscle wasting
- Tight joints (contractures)
- Curved spine (kyphosis or lordosis)
- Shrinking at the sides of the tongue
- Tight ankles
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 KY 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); 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 KY gene cause this condition. GARD lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent.
Also known as: kyphosis, lateral tongue atrophy, myofibrillar myopathy 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 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome.
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