Rare diseases · Sign or symptom
Lower limb spasticity
HP:0002061
What it means
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.
Rare diseases that can present with this77
Very common80–99%
25- Autosomal dominant spastic ataxia type 1
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 19
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 36
- Autosomal dominant spastic paraplegia type 38
- Autosomal dominant spastic paraplegia type 41
- Autosomal dominant spastic paraplegia type 42
- Autosomal dominant spastic paraplegia type 6
- Autosomal dominant spastic paraplegia type 73
- Autosomal dominant spastic paraplegia type 8
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 44
- Autosomal recessive spastic paraplegia type 45
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 62
- Autosomal recessive spastic paraplegia type 76
- Autosomal spastic paraplegia type 30
- Duplication of the pituitary gland
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Juvenile amyotrophic lateral sclerosis
- Leukoencephalopathy with bilateral anterior temporal lobe cysts
- Paraplegia-intellectual disability-hyperkeratosis syndrome
- Pelizaeus-Merzbacher disease, connatal form
Common30–79%
31- 2p15p16.1microdeletion syndrome
- Autosomal dominant spastic paraplegia type 13
- Autosomal dominant spastic paraplegia type 37
- Autosomal dominant spastic paraplegia type 4
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 28
- Autosomal recessive spastic paraplegia type 39
- Autosomal recessive spastic paraplegia type 48
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spastic paraplegia type 59
- Autosomal recessive spastic paraplegia type 60
- Autosomal recessive spastic paraplegia type 66
- Autosomal recessive spastic paraplegia type 67
- Autosomal recessive spastic paraplegia type 69
- Autosomal recessive spastic paraplegia type 70
- Autosomal recessive spastic paraplegia type 71
- Autosomal recessive spastic paraplegia type 77
- Infantile Krabbe disease
- Kjellin syndrome
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- Late-infantile/juvenile Krabbe disease
- MT-ATP6-related mitochondrial spastic paraplegia
- Partington syndrome
- RARS-related autosomal recessive hypomyelinating leukodystrophy
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- X-linked intellectual disability-psychosis-macroorchidism syndrome
- X-linked spastic paraplegia type 34
Sometimes5–29%
18- ALG9-CDG
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Bilateral perisylvian polymicrogyria
- CLCN4-related X-linked intellectual disability syndrome
- CNTNAP2-related developmental and epileptic encephalopathy
- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Combined oxidative phosphorylation defect type 39
and 10 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: Lower extremities spasticity · Lower extremity spasticity · Spastic lower extremities · Spastic lower extremity · Spastic lower limb · Spastic lower limbs · Spasticity in lower extremities · Spasticity in lower extremity
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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.