Rare Ophthalmology News
Advertisement
Disease Profile
Tyrosine hydroxylase deficiency
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
Infancy
ICD-10
G24.1
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)
Parkinsonism, infantile, autosomal recessive; Dystonia, DOPA responsive, autosomal recessive; DOPA responsive dystonia, autosomal recessive;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Tyrosine hydroxylase (TH) deficiency is a rare
Symptoms
The severe form of TH deficiency is called infantile parkinsonism. Children affected by this form generally begin developing features of the condition between age three to twelve months. Signs and symptoms of infantile parkinsonism may include:[1][3]
- Delayed motor milestones (i.e. sitting up, crawling, walking)
Intellectual disability - Speech problems
- Muscle stiffness, especially in the arms and legs
- Unusual positioning of body
Ptosis - Abnormal, involuntary eye movements
- Constipation
- Gastroesophageal reflux
- Difficulty regulating body temperature, blood sugar and blood pressure
- Mental health conditions (i.e. depression, anxiety, or obsessive-compulsive behaviors)
The very severe form of TH deficiency which is called progressive infantile
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 | ||
Babinski sign | 0003487 | |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Brisk reflexes | 0001348 | |
Central |
0011398 | |
Constipation | 0002019 | |
Decreased CSF homovanillic acid | 0003785 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Excessive salivation |
Mouth watering
Oversalivation
Watery mouth
[ more ] |
0003781 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Focal dystonia | 0004373 | |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Hypokinesia |
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ] |
0002375 |
Irritability |
Irritable
|
0000737 |
Lethargy | 0001254 | |
Limb dystonia | 0002451 | |
Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
Motor delay | 0001270 | |
Myoclonus | 0001336 | |
Night sweats | 0030166 | |
Oculogyric crisis | 0010553 | |
Parkinsonism | 0001300 | |
Pes cavus |
High-arched foot
|
0001761 |
Postural tremor | 0002174 | |
Ptosis |
Drooping upper eyelid
|
0000508 |
Rigidity |
Muscle rigidity
|
0002063 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
5%-29% of people have these symptoms | ||
Fever | 0001945 | |
Generalized dystonia | 0007325 | |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
1%-4% of people have these symptoms | ||
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Progressive encephalopathy | 0002448 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] |
0000298 |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Parkinsonism with favorable response to dopaminergic medication | 0002548 | |
Tremor | 0001337 | |
0003828 |
Cause
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
Unfortunately, children with infantile parkinsonism or progressive infantile
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include different forms of DRD (e.g. autosomal dominant DRD), early onset torsion dystonia, myoclonic dystonia and other types of early-onset parkinsonism. It can also be mistaken for cerebral palsy or spastic paraplegia. Differential diagnoses that need to be considered for the more severe, encephalopathy-like phenotype include febrile infection-related epilepsy syndrome, neonatal hypoxic and ischemic brain injury, other tetrahydrobiopterin (BH4)-related enzyme deficiencies and mitochondrial disorders.
Visit the Orphanet disease page for more information.
|
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
-
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/ -
Pediatric Neurotransmitter Disease Association
28 Prescott Place
Old Bethpage, NY 11804
Telephone: 603-733-8409
E-mail: [email protected]
Website: https://www.pndassoc.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
- Genetics Home Reference (GHR) contains information on Tyrosine hydroxylase deficiency. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Tyrosine hydroxylase deficiency. Click on the link to view a sample search on this topic.
References
- Tyrosine hydroxylase deficiency. Genetic Home Reference. April 2009; https://ghr.nlm.nih.gov/condition/tyrosine-hydroxylase-deficiency.
- Tyrosine hydroxylase deficiency. NORD. April 2014; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1245/viewAbstract.
- Yoshiaki Furukawa, MD, PhD and Stephen Kish, PhD. Tyrosine Hydroxylase Deficiency. GeneReviews. July 2014; https://www.ncbi.nlm.nih.gov/books/NBK1437/.
Rare Ophthalmology News