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Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Disease definition
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is 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: Disorder- Synonym(s):
- Autosomal recessive spastic paraplegia type 49
- HSAN due to TECPR2 mutation
- SPG49
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: G11.4
- OMIM: 615031
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2021)
- Disability factsheet
- Français (2018, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.