Rare diseases · Sign or symptom
Spastic paraplegia
HP:0001258
What it means
Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.
This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies.
Rare diseases that can present with this41
Very common80–99%
16- Autosomal dominant spastic paraplegia type 13
- Autosomal dominant spastic paraplegia type 6
- Autosomal recessive spastic paraplegia type 24
- Autosomal recessive spastic paraplegia type 27
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 45
- Autosomal recessive spastic paraplegia type 54
- Autosomal recessive spastic paraplegia type 57
- Autosomal recessive spastic paraplegia type 59
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 75
- Infantile-onset ascending hereditary spastic paralysis
- MASA syndrome
- Mutilating hereditary sensory neuropathy with spastic paraplegia
- Paraplegia-intellectual disability-hyperkeratosis syndrome
- X-linked complicated spastic paraplegia type 1
Common30–79%
12- Autosomal dominant spastic ataxia type 1
- Autosomal recessive spastic paraplegia type 23
- Autosomal recessive spastic paraplegia type 25
- Autosomal recessive spastic paraplegia type 39
- Autosomal recessive spastic paraplegia type 60
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Intellectual disability-spasticity-ectrodactyly syndrome
- Kjellin syndrome
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Sometimes5–29%
11- Alpha-mannosidosis, infantile form
- Amyotrophic lateral sclerosis type 4
- Autosomal dominant optic atrophy plus syndrome
- Autosomal recessive spastic paraplegia type 56
- Chédiak-Higashi syndrome
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Hereditary cryohydrocytosis with reduced stomatin
- Isolated ATP synthase deficiency
and 3 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Spastic paraplegia, lower limb
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.