Living with Hereditary spastic paraplegia 16
An X-linked type of hereditary spastic paraplegia that starts in infancy, with motor delay and other features.
Understanding Hereditary spastic paraplegia 16
It starts in infancy. Features include delayed motor skills, mild intellectual disability, trouble with expressive speech, fast eye movements (nystagmus), vision loss, and bladder and gut problems. Some people have weakness in all four limbs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Delayed motor skills
- Mild intellectual disability
- Trouble with expressive speech
- Fast, rhythmic eye movements (nystagmus)
- Vision loss
- Weakness in all four limbs (tetraplegia)
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 links it to variation in chromosome region Xq11.2 and doesn't name a gene. It is X-linked, meaning the gene is on the X chromosome.
Also known as: hereditary spastic paraplegia type 16; spastic paraplegia 16, x-linked; spastic paraplegia 16, x-linked, complicated, x-linked recessive; spg16; x-linked spastic paraplegia 16; x-linked spastic paraplegia type 16
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 Hereditary spastic paraplegia 16.
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