Autosomal recessive spastic paraplegia type 49
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 320385
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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| Recurrent respiratory infections |
| Muscular edema |
30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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| Cerebral hemorrhage |
| Hypoplasia of the corpus callosum |
| Central apnea |
| Spastic diplegia |
| Increased facial adipose tissue |
| Cerebellar atrophy |
| Cerebral atrophy |
| Seizures |
An unknown % of people have these symptoms.
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Fremont, CA, 94539-7241, United States Phone: 1-877-773-4483 Fax : 1-877-773-4483 Email: information@sp-foundation.org Url: https://sp-foundation.org/
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