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  3. Autosomal recessive spastic paraplegia type 49
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Autosomal recessive spastic paraplegia type 49


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Other Names:
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia-49; Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; HSAN due to TECPR2 mutation; Autosomal recessive spastic paraplegia-49; SPG49; TECPR2 See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases
This disease is grouped under:
Hereditary spastic paraplegia

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.
Last updated: 11/1/2018

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 27 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
30%-79% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Brachycephaly
Short and broad skull
0000248
Broad neck
Increased width of neck
Wide neck
[ more ]
0000475
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
0000678
Dysarthria
Difficulty articulating speech
0001260
Dysmetria
Lack of coordination of movement
0001310
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
0000293
Gait ataxia
Inability to coordinate movements when walking
0002066
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Global developmental delay 0001263
Hypomimic face
Dull facial expression
0000338
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Low anterior hairline
Low frontal hairline
Low-set frontal hairline
[ more ]
0000294
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Round face
Circular face
Round facial appearance
Round facial shape
[ more ]
0000311
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ]
0004322
5%-29% of people have these symptoms
Central apnea 0002871
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
Spastic gait
Spastic walk
0002064
Spastic paraplegia 0001258
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Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Spastic Paraplegia Foundation (SPF)
    1605 Goularte Place
    Fremont, CA 94539-7241
    Telephone: 1-877-773-4483
    Fax: 1-877-773-4483
    E-mail: information@sp-foundation.org
    Website: https://sp-foundation.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive spastic paraplegia type 49. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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