Rare diseases · Sign or symptom
Dysphagia
Poor swallowing
HP:0002015
What it means
Difficulty in swallowing.
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 this285
Very common80–99%
31- 9q33.3q34.11microdeletion syndrome
- ABeta amyloidosis, Iowa type
- Alpha-B crystallin-related late-onset myopathy
- Botulism
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Congenital myasthenic syndrome
- Developmental malformations-deafness-dystonia syndrome
- Dihydropteridine reductase deficiency
- Dystonia-aphonia syndrome
- Facial onset sensory and motor neuronopathy
- Foodborne botulism
- Gaucher disease type 2
- German syndrome
- Iatrogenic botulism
- Idiopathic achalasia
- Infant botulism
- Intestinal botulism
- Kagami-Ogata syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- Niemann-Pick disease type C
- Oculopharyngeal muscular dystrophy
- Odontomatosis-aortae esophagus stenosis syndrome
- Prader-Willi syndrome
- Presynaptic congenital myasthenic syndrome
- Progressive supranuclear palsy
- Spinocerebellar ataxia type 11
- Spinocerebellar ataxia type 7
- Tetanus
- Toxic epidermal necrolysis
- Wound botulism
- X-linked Alport syndrome-diffuse leiomyomatosis
Common30–79%
48- 1p36deletion syndrome
- 4H leukodystrophy
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- AGel amyloidosis
- Alexander disease
- Alexander disease type II
- Alobar holoprosencephaly
- Alternating hemiplegia of childhood
- Amyotrophic lateral sclerosis
- Anaplastic thyroid carcinoma
- Arnold-Chiari malformation type I
- Autosomal dominant spastic ataxia type 1
- Autosomal dominant striatal neurodegeneration
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 54
- Birk-Barel syndrome
- Carney-Stratakis syndrome
- CHARGE syndrome
- Christianson syndrome
- Classic pantothenate kinase-associated neurodegeneration
- Congenital fiber-type disproportion myopathy
- Diffuse cutaneous systemic sclerosis
- DNAJB6-related limb-girdle muscular dystrophy D1
- Dystonia 16
- Dystonia 28
- Early infantile developmental and epileptic encephalopathy
- Early-onset cerebellar ataxia with retained tendon reflexes
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Ebola hemorrhagic fever
- Emanuel syndrome
- Eosinophilic gastroenteritis
- Eosinophilic granulomatosis with polyangiitis
- Esophageal atresia
- Familial infantile bilateral striatal necrosis
- Fatal familial insomnia
- Frontotemporal dementia with motor neuron disease
- Gastrointestinal stromal tumor
- Gaucher disease
- Glutaryl-CoA dehydrogenase deficiency
- Hereditary angioedema type 1
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 2 diseases 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
Also called: Deglutition disorder · Difficulty swallowing · Swallowing difficulties · Swallowing difficulty
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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.