Rare diseases · Sign or symptom
Limb hypertonia
Increased muscle tone of arm or leg
HP:0002509
Rare diseases that can present with this29
Common30–79%
16- Amish lethal microcephaly
- Autosomal recessive spastic paraplegia type 59
- Autosomal recessive spastic paraplegia type 60
- Autosomal recessive spastic paraplegia type 66
- COG4-CDG
- Dopa-responsive dystonia due to sepiapterin reductase deficiency
- Familial dyskinesia and facial myokymia
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Infantile dystonia-parkinsonism
- Marchiafava-Bignami disease
- MEND syndrome
- PLAA-associated neurodevelopmental disorder
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- WARS2-related combined oxidative phosphorylation defect
- Wiedemann-Rautenstrauch syndrome
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Sometimes5–29%
12- ALG11-CDG
- Allan-Herndon-Dudley syndrome
- Aromatic L-amino acid decarboxylase deficiency
- Bilateral perisylvian polymicrogyria
- Cerebellar-facial-dental syndrome
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Cockayne syndrome
- Cockayne syndrome type 2
and 4 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: Appendicular hypertonia
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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.