Living with Hereditary spastic paraplegia 54
A rare, complex type of hereditary spastic paraplegia starting in early childhood, with developmental delay and short stature.
Understanding Hereditary spastic paraplegia 54
It brings worsening leg stiffness, balance problems, short stature, delayed development, and intellectual disability. Less often there are foot contractures, speech and swallowing trouble, crossed eyes, and underdeveloped optic nerves.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spastic paraplegia)
- Spastic walk
- Delayed development
- Intellectual disability
- Speech trouble (dysarthria)
- Swallowing trouble (dysphagia)
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 DDHD2 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 DDHD2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive complex spastic paraplegia caused by mutation in ddhd2; autosomal recessive spastic paraplegia 54; autosomal recessive spastic paraplegia type 54; ddhd2 autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 54; spastic paraplegia 54, autosomal recessive
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 54.
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