Rare diseases · Sign or symptom
Muscle spasm
HP:0003394
What it means
Sudden and involuntary contractions of one or more muscles.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this91
Very common80–99%
7Common30–79%
37- Acetazolamide-responsive myotonia
- Adrenocortical carcinoma with pure aldosterone hypersecretion
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Autosomal dominant optic atrophy and cataract
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 19
- Autosomal dominant spastic paraplegia type 8
- Becker muscular dystrophy
- Charcot-Marie-Tooth disease type 4C
- Cholera
- Classical Ehlers-Danlos syndrome
- Congenital muscular dystrophy without intellectual disability
- DNA2-related mitochondrial DNA deletion syndrome
- Episodic ataxia type 1
- Familial isolated hypoparathyroidism
- Focal stiff limb syndrome
- Friedreich ataxia
- Glycogen storage disease due to lactate dehydrogenase deficiency
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Hyperprolinemia type 2
- Isaacs syndrome
- Juvenile dermatomyositis
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- Metachromatic leukodystrophy
- Mitochondrial trifunctional protein deficiency
- Multifocal motor neuropathy
- NARP syndrome
- Neu-Laxova syndrome
- Neuroleptic malignant syndrome
- Spinocerebellar ataxia type 2
- Tay-Sachs disease
- Thyrotoxic periodic paralysis
- TRAPPC11-related limb-girdle muscular dystrophy R18
- VIPoma
Sometimes5–29%
36- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- Autoimmune hypoparathyroidism
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant spastic paraplegia type 37
- Autosomal dominant spastic paraplegia type 9A
- Bilateral striopallidodentate calcinosis
- Carnitine palmitoyl transferase II deficiency, myopathic form
and 28 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: Muscle cramps · Muscle spasms · Nocturnal hand and foot cramps · Nocturnal leg cramp · Sleep-related dystonia
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.