Living with Hereditary spastic paraplegia 51
A rare condition affecting nervous system development, with weak muscles at birth that become stiff, and learning and speech problems.
Understanding Hereditary spastic paraplegia 51
Babies may have weak muscles at birth, which can progress to stiff and tight muscles. People may have trouble with learning, thinking, and speaking. Many have a small head, seizures, and problems walking.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone at birth (hypotonia)
- Stiff, tight muscles (spasticity)
- Severe intellectual disability
- Seizures
- Small head (microcephaly)
- Delayed or no walking
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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
- A doctor familiar with rare conditions, plus specialists as needed
- 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
It is caused by changes in the AP4E1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ap4e1 hereditary spastic paraplegia; autosomal dominant spastic paraplegia 51; cerebral palsy, spastic quadriplegic, 4; cpsq4; hereditary spastic paraplegia caused by mutation in ap4e1; hereditary spastic paraplegia type 51
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia 51 · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spastic paraplegia 51.
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