Rare diseases · Sign or symptom
Peripheral axonal neuropathy
HP:0003477
What it means
An abnormality characterized by disruption of the normal functioning of peripheral axons.
This abnormality can be assay by electromyography (EMG) or by nerve biopsy.
Rare diseases that can present with this49
Very common80–99%
9- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 74
- Autosomal recessive spastic paraplegia type 78
- Charcot-Marie-Tooth disease type 4G
- COASY protein-associated neurodegeneration
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- Spinocerebellar ataxia type 43
Common30–79%
19- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant spastic paraplegia type 10
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Charcot-Marie-Tooth disease type 1B
- Choreoacanthocytosis
- Cockayne syndrome type 3
- Combined oxidative phosphorylation defect type 7
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Kjellin syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- MT-ATP6-related mitochondrial spastic paraplegia
- Ocular anomalies-axonal neuropathy-developmental delay syndrome
- Paraparetic variant of Guillain-Barré syndrome
- PLA2G6-related neurodegeneration, infantile-onset
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- Tangier disease
- Wolfram-like syndrome
- X-linked cerebral adrenoleukodystrophy
Sometimes5–29%
18- Autosomal dominant centronuclear myopathy
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal dominant spastic paraplegia type 9B
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 56
- Classical-like Ehlers-Danlos syndrome type 1
- Cockayne syndrome
- EAST syndrome
and 10 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: Axonal neuropathy · Axonal peripheral neuropathy
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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.