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Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Disease definition
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.
ORPHA:320385
Classification level: DisorderA summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)
Detailed information
General public
- Article for general public
- Français (2015, pdf) - Fondation Groupama
- Svenska (2020) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews
Disability
- Disability factsheet
- Français (2018, pdf) - Orphanet


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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