Living with Hereditary spastic paraplegia 63
An extremely rare, complex type of hereditary spastic paraplegia starting in infancy, with short stature and normal thinking.
Understanding Hereditary spastic paraplegia 63
Children walk late and have a scissors-like walk. They are also short in height, with normal thinking skills. Brain imaging shows changes in the white matter around the fluid spaces and in the corpus callosum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff muscles (spasticity)
- Scissors-like walk
- Delayed motor skills
- Short stature
- Brisk reflexes
- Muscle wasting
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 AMPD2 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
It is caused by changes in the AMPD2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ampd2 autosomal recessive complex spastic paraplegia; autosomal recessive complex spastic paraplegia caused by mutation in ampd2; autosomal recessive spastic paraplegia 63; autosomal recessive spastic paraplegia type 63; hereditary spastic paraplegia type 63; spastic paraplegia 63
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 63.
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