Living with Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
A rare nerve condition starting in infancy with stiff legs, toe walking, a curved spine, and shrinking at the sides of the tongue.
Understanding Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
It starts in newborns or infants with slowly worsening stiffness in the legs, overactive reflexes, toe walking, and delayed motor milestones. A curved spine becomes clear in older people, and most have shrinking (atrophy) at the sides of the tongue. Some also have intellectual disability, language problems, or upper limb involvement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiffness in the legs (spastic paraplegia)
- Toe walking
- Delayed motor skills
- Curved spine (kyphoscoliosis)
- Shrinking of the tongue sides (tongue atrophy)
- Club feet
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.
- 4Connect with expert centers
Spastic Paraplegia Foundation 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: Spastic Paraplegia 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 Spastic Paraplegia Foundation
- 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. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: kyphoscoliosis-lateral tongue atrophy-hsp syndrome; kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
Broader rare-disease groups
- 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 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome.
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