Living with Spastic paraplegia-precocious puberty syndrome
A rare inherited condition with slowly worsening leg stiffness and very early puberty in boys.
Understanding Spastic paraplegia-precocious puberty syndrome
Progressive leg stiffness comes with puberty starting very early, around age 2, due to overgrowth of Leydig cells in the testes. Moderate intellectual disability was also reported. GARD notes there have been no further descriptions in the medical literature since 1983. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, weak legs
- Early puberty in boys
- Moderate intellectual disability
- Slurred speech (dysarthria)
- Brisk reflexes
- Overgrowth of Leydig cells
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.
- 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
GARD doesn't list a gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: precocious puberty with spastic paraplegia
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 Spastic paraplegia-precocious puberty syndrome.
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