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Disease Profile
GTPCH1-deficient DRD
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
G24.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
DYT-GCH1; Dopa-responsive dystonia autosomal dominant Segawa syndrome; DOPA-responsive dystonia, with or without hyperphenylalaninemia;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 98808
Symptoms
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal substantia nigra morphology | 0045007 | |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Babinski sign | 0003487 | |
Brisk reflexes | 0001348 | |
Decreased CSF homovanillic acid | 0003785 | |
Depressivity |
Depression
|
0000716 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Limb |
0002451 | |
Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
Parkinsonism | 0001300 | |
Pes cavus |
High-arched foot
|
0001761 |
Postural tremor | 0002174 | |
Rigidity |
Muscle rigidity
|
0002063 |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Torticollis |
Wry neck
|
0000473 |
Transient hyperphenylalaninemia | 0008297 | |
5%-29% of people have these symptoms | ||
0000007 | ||
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Generalized dystonia | 0007325 | |
Horizontal |
0000666 | |
0000822 | ||
Hypothyroidism |
Underactive thyroid
|
0000821 |
Impaired vibration sensation in the lower limbs |
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs
[ more ] |
0002166 |
Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
Paresis of extensor muscles of the big toe | 0002601 | |
Progressive flexion |
0005876 | |
Rheumatoid |
0001370 | |
0002650 | ||
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Parkinsonism with favorable response to dopaminergic medication | 0002548 | |
Writer's cramp | 0002356 |
Organizations
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
-
Cure Dystonia Now
PO Box 9040
Farmingdale, NY 11735
Telephone: +1-516-584-4156
E-mail: [email protected]
Website: https://www.curedystonianow.org/index -
Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 1730
Chicago, IL 60601-1905
Toll-free: 1-0800-377-3978
Telephone: +1-312-755-0198
Fax: +1-312-803-0138
E-mail: [email protected]
Website: https://dystonia-foundation.org/
Learn more
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.
Where to Start
- MedlinePlus Genetics contains information on GTPCH1-deficient DRD. This website is maintained by the National Library of Medicine.
- The Merck Manual provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.