Rare diseases · Sign or symptom
Somatic sensory dysfunction
HP:0003474
What it means
An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia.
Rare diseases that can present with this68
Very common80–99%
11- ABetaL34V amyloidosis
- Anterior cutaneous nerve entrapment syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal recessive cerebellar ataxia-movement disorder syndrome
- Charcot-Marie-Tooth disease type 1F
- Chronic inflammatory demyelinating polyneuropathy
- Hereditary motor and sensory neuropathy, Okinawa type
- Neuromyelitis optica spectrum disorder
- Spinocerebellar ataxia type 18
- X-linked adrenoleukodystrophy
Common30–79%
28- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Acute transverse myelitis
- Alström syndrome
- Arnold-Chiari malformation type I
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant optic atrophy and cataract
- Autosomal recessive spastic paraplegia type 44
- Autosomal spastic paraplegia type 30
- Cockayne syndrome
- Complex regional pain syndrome
- Corticobasal syndrome
- Cysticercosis
- Early-onset cerebellar ataxia with retained tendon reflexes
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Progressive multifocal leukoencephalopathy
- Progressive supranuclear palsy-corticobasal syndrome
- Roussy-Lévy syndrome
- Secondary syringomyelia
- Spastic paraplegia type 7
- Spinal cord injury
- Spinocerebellar ataxia type 37
- Spinocerebellar ataxia type 38
- Spinocerebellar ataxia type 7
- Spinocerebellar ataxia with axonal neuropathy type 2
- Subacute inflammatory demyelinating polyneuropathy
- Trigeminal neuralgia
- X-linked Charcot-Marie-Tooth disease type 3
Sometimes5–29%
26- Acute disseminated encephalomyelitis
- Acute intermittent porphyria
- Adult Krabbe disease
- African trypanosomiasis
- Amyotrophic lateral sclerosis type 4
- Ataxia-oculomotor apraxia type 4
- Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- Charcot-Marie-Tooth disease type 1B
and 18 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 7 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: Sensory impairment
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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.