Rare diseases · Sign or symptom
Muscle stiffness
HP:0003552
What it means
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Rare diseases that can present with this35
Very common80–99%
8Common30–79%
17- Central core disease
- Childhood-onset nemaline myopathy
- Classic glucose transporter type 1 deficiency syndrome
- Classic pantothenate kinase-associated neurodegeneration
- Distal anoctaminopathy
- Distal myotilinopathy
- Encephalocraniocutaneous lipomatosis
- Episodic ataxia type 1
- Glycogen storage disease due to lactate dehydrogenase deficiency
- Isaacs syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Malignant hyperthermia of anesthesia
- Marinesco-Sjögren syndrome
- Paramyotonia congenita of Von Eulenburg
- PRKAR1B-related neurodegenerative dementia with intermediate filaments
- Proximal myotonic myopathy
- Thyrotoxic periodic paralysis
Sometimes5–29%
10- Adult-onset nemaline myopathy
- Aicardi-Goutières syndrome
- Alpha-B crystallin-related late-onset myopathy
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive progressive external ophthalmoplegia
- Infantile Krabbe disease
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Mucopolysaccharidosis type 2
and 2 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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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.