Rare diseases · Sign or symptom
Peripheral neuropathy
HP:0009830
What it means
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Terms from this subhierarchy should be used to describe functional abnormalities seen in peripheral neuropathy. Morphological abnormalities should be coded separately.
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 this166
Very common80–99%
27- Adult polyglucosan body disease
- Adult Refsum disease
- Ataxia-oculomotor apraxia type 1
- Ataxia with vitamin E deficiency
- Attenuated Chédiak-Higashi syndrome
- Autosomal recessive spastic paraplegia type 57
- Cataract-ataxia-deafness syndrome
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Chronic inflammatory demyelinating polyneuropathy
- Distal myotilinopathy
- Eosinophilic granulomatosis with polyangiitis
- Familial dysautonomia
- Glutamate-cysteine ligase deficiency
- Hereditary neuropathy with liability to pressure palsies
- Krabbe disease
- Leprosy
- Machado-Joseph disease type 1
- MEDNIK syndrome
- Mutilating hereditary sensory neuropathy with spastic paraplegia
- Palmoplantar keratoderma-spastic paralysis syndrome
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Primary erythromelalgia
- Secondary erythromelalgia
- Severe X-linked mitochondrial encephalomyopathy
- Spinocerebellar ataxia type 1
- X-linked cerebral adrenoleukodystrophy
- X-linked Charcot-Marie-Tooth disease type 5
Common30–79%
50- Acrodysostosis
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Acute intermittent porphyria
- Adrenomyeloneuropathy
- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Ataxia-oculomotor apraxia type 4
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spastic paraplegia type 70
- Autosomal recessive spastic paraplegia type 71
- Autosomal recessive spastic paraplegia type 76
- CEDNIK syndrome
- Cerebrotendinous xanthomatosis
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Classical-like Ehlers-Danlos syndrome type 1
- Cockayne syndrome
- Cockayne syndrome type 3
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Cryoglobulinemic vasculitis
- Flynn-Aird syndrome
- Fragile X-associated tremor/ataxia syndrome
- Granulomatosis with polyangiitis
- Hereditary folate malabsorption
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Infantile Krabbe disease
- Infantile osteopetrosis with neuroaxonal dysplasia
- Isolated ATP synthase deficiency
- Late-infantile/juvenile Krabbe disease
- Lethal ataxia with deafness and optic atrophy
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Machado-Joseph disease type 2
- MELAS
- Metachromatic leukodystrophy
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial trifunctional protein deficiency
- Multiple symmetric lipomatosis
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- PLA2G6-related neurodegeneration, infantile-onset
- Polyarteritis nodosa
- Porphyria due to ALA dehydratase deficiency
- Primary hyperoxaluria
- Recessive mitochondrial ataxia syndrome
- Simple cryoglobulinemia
- Smith-Magenis syndrome
- Spinocerebellar ataxia type 38
- Spinocerebellar ataxia with axonal neuropathy type 1
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
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 3 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: Neuropathy · Peripheral nerve damage · Peripheral neuritis
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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.