Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

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Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

Synonyms: Autosomal recessive spastic paraplegia type 49 | HSAN due to TECPR2 mutation | SPG49

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version November 2023

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Hereditary sensory and autonomic neuropathy due to TECPR2 mutation?

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Advocacy Organizations

Eleanor Kaplan Foundation Inc.

The Eleanor Kaplan Foundation or TeamLeni, is a 501c3 to raise awareness, fund and establish research programs and develop curative therapeutics for SPG49 and all TECPR2 related disorders.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Clinical Trials

For a list of clinical trials in this disease area, please click here.