Segawa Syndrome, Autosomal Recessive (ARSEGS)

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OMIM® 57 605407 MeSH 44 D020734 ICD10 via Orphanet 33 G24.1 UMLS via Orphanet 71 C2673535

Orphanet 58 ORPHA101150 MedGen 41 C1854299 C2673535 SNOMED-CT via HPO 68 103606006 11934000 127324008 14760008 16046003 162294008 17450006 205091006 214264003 225595004 229721007 246586009 249808002 25136009 255385008 258211005 26079004 275295002 29164008 32798002 366575004 386661006 397932003 399317006 425492002 42984000 43994002 445006008 50177009 5332004 53827007 56610005 62415009 62718007 78164000 86765009 more UMLS 70 C2673535

MedlinePlus Genetics : ⁴³ Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.The mild form of this disorder is called TH-deficient dopa-responsive dystonia (DRD). Symptoms usually appear during childhood. Affected individuals may exhibit unusual limb positioning and a lack of coordination when walking or running. In some cases, people with TH-deficient DRD have additional movement problems such as shaking when holding a position (postural tremor) or involuntary upward-rolling movements of the eyes. The movement difficulties may slowly increase with age but almost always get better with medical treatment.The severe forms of TH deficiency are called infantile parkinsonism and progressive infantile encephalopathy. These forms of the disorder appear soon after birth and are more difficult to treat effectively.Babies with infantile parkinsonism have delayed development of motor skills such as sitting unsupported or reaching for a toy. They may have stiff muscles, especially in the arms and legs; unusual body positioning; droopy eyelids (ptosis); and involuntary upward-rolling eye movements. The autonomic nervous system, which controls involuntary body functions, may also be affected. Resulting signs and symptoms can include constipation, backflow of stomach acids into the esophagus (gastroesophageal reflux), and difficulty regulating blood sugar, body temperature, and blood pressure. People with the infantile parkinsonism form of the disorder may have intellectual disability, speech problems, attention deficit disorder, and psychiatric conditions such as depression, anxiety, or obsessive-compulsive behaviors.Progressive infantile encephalopathy is an uncommon severe form of TH deficiency. It is characterized by brain dysfunction and structural abnormalities leading to profound physical and intellectual disability.

MalaCards based summary : Segawa Syndrome, Autosomal Recessive, also known as tyrosine hydroxylase deficiency, is related to dystonia and dystonia, dopa-responsive, and has symptoms including tremor, abnormality of extrapyramidal motor function and gait ataxia. An important gene associated with Segawa Syndrome, Autosomal Recessive is TH (Tyrosine Hydroxylase), and among its related pathways/superpathways is Folate biosynthesis. Affiliated tissues include eye, brain and fetal brain, and related phenotypes are ptosis and constipation

GARD : ²⁰ Tyrosine hydroxylase (TH) deficiency is a rare inherited condition that affects the nervous system. There are three different forms of the condition that vary in severity. The mild form is called TH-deficient dopa-responsive dystonia and typically develops between age twelve months and six years. The two severe forms, which are called infantile parkinsonism and progressive infantile encephalopathy, often begin shortly after birth or during early infancy. Although there is some overlap of features among the three forms, each is associated with unique signs and symptoms. TH deficiency is caused by changes ( mutations ) in the TH gene and is inherited in an autosomal recessive manner. Affected people are usually treated with levodopa therapy.

OMIM® : ⁵⁷ Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by Stamelou et al., 2012). See also infantile parkinsonism-dystonia syndrome (613135), caused by mutation in the SLC6A3 gene (126455). (605407) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : ⁷² Segawa syndrome autosomal recessive: A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA.

GeneReviews: NBK1437

Clinical features from OMIM®:

605407 (Updated 05-Apr-2021)

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