Alan dudley syndrome. A MCT8 Deficiency also referred to as Allan-Herndon-Dudley syndrome is an X-link syndrome that only affects boys. It is characterized by generalized hypotonia, attacks of severe generalized dystonia and dysconjugate eye movements, and abnormalities of thyroid tests, except dysmorphisms and cerebral white matter abnormalities. AHDS is caused by the defective gene SLC16A2 on the X-chromosome resulting in a deficiency of the thyroid hormone (TH) transporter, MCT8 (monocarboxylate transporter 8). MCT8 is a thyroid hormone (TH) transporter which is crucial for the transport of TH from the blood into different tissues. Jun 21, 2025 · Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked disease with severe neuropsychiatric abnormalities including psychomotor retardation, lack of speech development, dystonia, and severe intellectual deficits. MCT8 is a thyroid hormone transporter which is crucial for the transport of thyroid hormone from the blood into different tissues. 2019 Sep;7 (9):661-663. Most children with Jun 9, 2022 · Adeno-associated viruses are common viruses that can be used as vectors to deliver genetic therapies into cells (Wikipedia) Recent discoveries may lead to treatments for patients with Allan-Herndon-Dudley syndrome (AHDS), a brain development disorder that causes severe intellectual disability and problems with movement. [1] Allan-Herndon-Dudley syndrome is caused by a change in someone’s DNA. Explore symptoms, inheritance, genetics of this condition. Treatment of Manifestations in Individuals with Allan-Herndon-Dudley Syndrome (AHDS) Oct 10, 2024 · This is a short explanation for people who are unfamiliar with this syndrome. Jun 28, 2023 · Allan-Herndon-Dudley syndrome is a type of genetic disorder that affects the development of the brain and causes intellectual disability that can range from mild to severe, along with movement disorder. MCT8 deficiency (also known as Allan–Herndon–Dudley syndrome) is a rare genetic disorder affecting brain development and thyroid hormone transport. The aim of the study was to redefine the phenotype of Allan-Herndon-Dudley syndrome (AHDS), which is caused by mutations in the SLC16A2 gene that encodes the brain transporter of thyroid hormones. Nov 15, 2022 · X-linked MCT8 mutations cause Allan-Herndon-Dudley syndrome (AHDS) characterized by severe developmental delay and specific thyroid function abnormality. Clinical phenotypes, brain imaging, thyroid hormone profiles, and genetic data were compared to the exi … MDs are frequent clinical features of MCT8 deficiency, possibly related to the important role of thyroid hormones in brain development and functioning of normal dopaminergic circuits of the basal ganglia. In 2004, researchers discovered mutations in the SLC16A2 Mar 7, 2015 · This study will investigate the effect of treatment with tiratricol (also called Triac) in young boys (≤30 months) with MCT8 deficiency (also called the Allan-Herndon-Dudley syndrome (AHDS)). Oct 22, 2025 · Do you qualify for these Allan-Herndon-Dudley Syndrome studies? We're researching treatments for 2025. Mutations in the SLC16A2 gene have been discovered to be causative for AHDS in 2004, but a comprehensive understanding of the function of the encoded protein, monocarboxylate transporter 8 (MCT8), is Introduction Allan-Herndon-Dudley syndrome (AHDS) is a rare disease char-acterized as an X-linked mental retardation syndrome that is asso-ciated with neuromuscular involvement and thyroid function ab-normality. MCT8 Deficiency also known as Allan-Herndon-Dudley (AHDS) syndrome is a genetic X-linked disorder that predominantly affects boys, and in rarer cases, girls. Allan-Herndon-Dudley syndrome Suggest an update Disease definition A rare X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. Find scientific articles on PubMed and discover other names for Sep 1, 2023 · Learn more about Allan-Herndon-Dudley syndrome, including research studies from ClinicalTrials. Allan–Herndon–Dudley syndrome (AHDS) [1] is a rare X-linked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with speech and movement. Consequently, the CNS of AHDS patients appears to be in a TH deficient state, which greatly compromises proper neural development and Aug 11, 2023 · Disorders of Sex Development | Congenital Adrenal Hyperplasia | Tuberous Sclerosis | Kallmann Syndrome | Prader-Willi Syndrome | Neurofibromatosis | Rett Syndrome | 22q11 Deletion Syndrome | Turner Syndrome | Noonan Syndrome | Allan-Herndon-Dudley Syndrome | Saethre-Chotzen Syndrome | Congenital Hypopituitarism | Cornelia and other conditions May 8, 2020 · Patient 3 presented as sibling of patient 2 with known AHD syndrome. Two recent discoveries co-led by scientists at Cedars-Sinai may help lead to new ways to treat patients with Allan-Herndon-Dudley syndrome (AHDS), a brain development disorder that causes severe intellectual disability and problems with movement. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people. Feb 13, 2024 · Abstract Objectives: To report an unusual case of MCT8 deficiency (Allan-Herndon-Dudley syndrome), an X-linked condition caused by pathogenic variants in the SLC16A2 gene. This syndrome mainly affects males, and the symptoms occur before birth. Although affected males have speech and a limited ability to communicate, they seem to enjoy interaction with others. Allan-Herndon-Dudley syndrome (AHDS) — also known at MCT8 deficiency — is a rare genetic disorder that affects a child’s cognition, mobility and overall health. The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, Allan--Herndon--Dudley syndrome (AHDS). . This blood test may prove that your child has Allan-Herndon-Dudley syndrome. In this article, we reported a patient with AHDS who presented with severe developmental delay and failure Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. In the first study, published in the peer-reviewed journal Thyroid, scientists at Cedars-Sinai and May 23, 2022 · Two recent discoveries may help lead to new ways to treat patients with Allan-Herndon-Dudley syndrome (AHDS), a brain development disorder that causes severe intellectual disability and problems Read this chapter of Syndromes: Rapid Recognition and Perioperative Implications, 2e online now, exclusively on AccessPediatrics. D. weight. The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, Allan-Herndon-Dudley syndrome (AHDS). This disease is an X-linked disorder Mar 15, 2025 · Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessively inherited disability syndrome, first described in 1944. It took 60 years of research to understand that the syndrome is caused by mutations in the monocarboxylate transporter (MCT8). 7,8 The clinical characteristics of the Allan–Herndon–Dudley syndrome The clinical phenotype of AHDS is dominated by two key features: a severe neurocognitive phenotype and signs of peripheral thyrotoxicosis (see Table 1). [1] Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with speech and movement. Read this chapter of Syndromes: Rapid Recognition and Perioperative Implications, 2e online now, exclusively on AccessAnesthesiology. several Dudley thyronines. AccessPediatrics is a subscription-based resource from McGraw Hill that features trusted medical content from the best minds in medicine. syndrome present Patients expressed in with infancy the Allan–Herndon– with transporter hypotonia, of spasticity and hyperreflexia weakness, and failure to gain developmental delays in childhood, as adults. [2] Allan–Herndon–Dudley syndrome, which is named eponymously for William Allan, Florence C. In this article, we reported a patient with AHDS who presented with severe developmental delay and failure to Introduction Allan Herndon Dudley Syndrome (AHDS) (OMIM #300523) is a rare X-linked syndrome characterized by cognitive impairment and infantile hypotonia evolving to spastic paraplegia within the first few years of life [1 – 5]. Diagnosis of Allan-Herndon-Dudley syndrome involves genetic testing and clinical Do you qualify for these Allan-Herndon-Dudley Syndrome studies? We're researching treatments for 2024. Sep 10, 2025 · Allan-Herndon-Dudley SyndromeTN 81 (09-25) DI 23022. Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. Allan-Herndon-Dudley syndrome is one of several XLID syndromes that present initially with hypotonia and later transition to spasticity. Nov 15, 2022 · Keywords: Allan-Herndon-Dudley syndrome, SLC16A2, MCT8, thyroid hormone transporter, X-linked mental retardation Citation: Zhang Q, Yang Q, Zhou X, Qin Z, Yi S and Luo J (2022) Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene. Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with speech and movement. Allan Herndon Dudley syndrome (AHDS) is a rare X-linked recessive disorder due to mutation in the SLC16A2 gene, which encodes a thyroid hormone (TH) transporter that facilitates the movement of TH across the neurons. This article provides a comprehensive overview of its genetics, clinical features, diagnosis, management, and prognosis. In this article, we reported a patient with AHDS who presented with severe developmental delay and failure to Jan 31, 2022 · Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder characterized by thyroid irregularities, neurological issues, and developmental delay. The first case of AHDS was reported by Allan et al. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates. Thus, we may need to test the child’s parents Dec 1, 2024 · Patients with an inactive thyroid hormone (TH) transporter MCT8 (Allan–Herndon–Dudley Syndrome, AHDS) display severe neurological impairments and motor disabilities, indicating an indispensable function of MCT8 in facilitating TH access to the human brain. Allan–Herndon–Dudley Syndrome (AHDS) is a rare X-linked genetic disorder that affects brain development and muscle control. Learn about diagnosis, treatment, and the importance of ongoing research in addressing this complex condition. The report describes a 1 year-old boy with severe developmental delay, truncal hypotonia, quadriparesis (spastic), dystonia, and thyroid function abnormality (high free T3, low reverse T3, low free T4, and normal TSH) suggesting a form of KEGG DISEASE: Allan-Herndon-Dudley syndromeDBGET Allan-Herndon-Dudley SyndromeClinical characteristics. It primarily affects males and is characterized by severe intellectual disability, hypotonia (low muscle tone), and movement abnormalities that resemble cerebral palsy. Twenty-nine males have been affected in seven generations. Allan-Herndon-Dudley syndrome is a rare genetic disorder that primarily affects males and is characterized by intellectual disability, developmental delays, and problems with movement. Abstract Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is unavailable. [1] in 1944, but its association with solute carrier family 16 member 2 (SLC16A2) mutation was first described in 2004 [2,3 A large family with X-linked mental retardation, originally reported in 1944 by Allan, Herndon, and Dudley, has been reinvestigated. Epub 2019 Jul 31. Feb 27, 2020 · A number sign (#) is used with this entry because Allan-Herndon-Dudley syndrome (AHDS) is caused by mutation in the MCT8 gene (SLC16A2; 300095) on chromosome Xq13. Clinical phenotypes, brain imaging, thyroid hormone profiles, and genetic data were compared to the exi … Allan–Herndon–Dudley syndrome is a rare genetic disorder caused by a likely pathogenic variant of SLC16A2. Current trials using thyroid hormone derivatives to overcome the transporter defect have failed to achieve patient-oriented therapeutic goals. Objectives: Our Triac in the treatment of Allan-Herndon-Dudley syndromeLancet Diabetes Endocrinol. 925 Allan-Herndon-Dudley Syndrome MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome (AHDS), is a genetic X-linked disorder that only affects boys. Conclusion: Allan-Herndon-Dudley syndrome is a rare neurological disease secondary to a mutation in the T3 transporter protein to nervous tissue. UCSF is studying samples and clinical information from patients worldwide with myelin-related disorders. Defective transport of thyroid hormones (THs) in this condition leads to severe neurodevelopmental impairment in males, while heterozygous females are usually asymptomatic or have mild TH abnormalities. Oct 22, 2025 · Allan-Herndon-Dudley Syndrome is a genetic disorder that impacts the brain and muscles. Aug 8, 2024 · Allan-Herndon-Dudley Syndrome Allan-Herndon-Dudley syndrome is a rare genetic disorder affecting the thyroid hormone transport. This syndrome is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays. Abnormal transport function is reflected by elevated free T3 and decreased free T4 levels along with clinical features characterized by neurological abnormalities including global developmental delay, central hypotonia, rotatory nystagmus Jul 31, 2019 · In Allan–Herndon–Dudley syndrome, the brain is deficient in thyroid hormone despite high circulating T 3 concentrations: T 3 concentration is increased but cannot enter into the central nervous system, secondary to a deficiency in MCT8-dependent transport of T 3 across the blood–brain barrier. Allan–Herndon–Dudley syndrome is a rare genetic disorder caused by a likely pathogenic variant of SLC16A2. Feb 5, 2014 · This therapeutical trial will be conducted in patients with the Allan-Herndon-Dudley Syndrome (AHDS), which is mutations in MCT8. Find scientific articles on PubMed and discover other names for Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor developmental delay/intellectual disability, neurological impairment with a movement disorder, and an abnormal thyroid hormone profile. They have global developmental delays in childhood, and they display spasticity and hyperreflexia as adults. In 1944 the first case of MCT8 deficiency was reported. allan herndon dudley syndrome group for parents or kids and young adults to communicate from all over the world. R371C). Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder characterized by thyroid irregularities, neurological issues, and developmental delay. Before our study, given the rarity of monocarboxylate transporter 8 (MCT8) deficiency, knowledge on the phenotypic characteristics, natural history, and life expectancy of Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes both moderate to severe intellectual disability and problems with speech and movement. Dystonia is common, but usually mild to moderate in severity, while hypokinesia was the predomi … We searched PubMed for studies published in English up to May 24, 2020, using the search terms “MCT8 deficiency”, “Allan-Herndon-Dudley Syndrome”, “AHDS”, “natural history”, and “life expectancy”. 1016/S2213-8587 (19)30217-7. Allan-Herndon-Dudley syndrome is a disorder of brain development that causes moderate to severe intellectual disability and problems with movement. MCT8 AHDS is a neurological condition that affects mobility, cognition and general health. Nash Herndon, [3][4] results from a mutation of the thyroid hormone transporter MCT8 (also Introduction: Allan-Herndon-Dudley syndrome (AHDS) is an X linked disorder – mutation of monocarboxylate transporter 8 (MCT8) gene. Allan-Herndon-Dudley SyndromeTN 30 (08-20) DI 23022. Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, hypokinesia, masked facies), and seizures From MedlinePlus Genetics Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. Lack of MCT8 function produces serious neurological disturbances, most Mar 25, 2025 · X-linked MCT 8 mutations cause Allan-Herndon-Dudley syndrome (AHDS), characterized by severe developmental delay and specific thyroid function abnormality. This is expected to allow the medicine to enter nerve cells in patients with Allan-Herndon-Dudley syndrome, replacing the hormone that they cannot transport, and thereby allowing the nerves to develop properly and relieving symptoms of the disease. It leads to a severe psychomotor retardation, significant hypotonia of the skeletal muscles, spastic or dystonic quadriplegia. Allan–Herndon–Dudley syndrome (AHDS) is an X-linked recessive disorder affecting brain development. AccessAnesthesiology is a subscription-based resource from McGraw Hill that features trusted medical content from the best minds in medicine. Testing for SLC16A2 was performed at the age of 5 months and returned positive for same mutation as sibling (p. Mar 15, 2025 · Allan-Herndon-Dudley syndrome (AHDS) is an X-linked recessively inherited disability syndrome, first described in 1944. Jan 31, 2022 · Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder characterized by thyroid irregularities, neurological issues, and developmental delay. Allan-Herndon-Dudley syndrome is caused The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, muscle hypotonia, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters. The hypothesis tested is that treatment with tiratricol will have a beneficial effect on the hypothyroid sta Abstract Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked disorder caused by mutation in the gene encoding the monocarboxylate transporter-8. Abstract Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. Although the T 3 is elevated, there are no systemic signs of thyroid dysfunction. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other Jan 13, 2025 · Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This research informs UCSF about patterns and details of leukodystrophy. Whole Dec 24, 2020 · Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. Symptoms often appear in infancy and can include weak muscle tone, difficulty walking, and limited speech. It causes intellectual disability, muscle weakness, and movement issues. Check your child online and learn about Allan-Herndon-Dudley syndrome, including its signs, symptoms, diagnosis, and valuable information. 1 Additional symptoms such as “dysarthria”, “athetosis”, “extrapyramidal symptoms”, “muscular hypotonia”, and “severe motor developmental delay” were described as clinical features of the disease. doi: 10. This gene is responsible for the Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8). Background: Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2) suffer from X-linked recessive Allan-Herndon-Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. This condition predominantly affects males and is characterized by moderate to severe intellectual disability, difficulties with speech, and motor function abnormalities. Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement Apr 28, 2020 · Allan-Herndon-Dudley syndrome is a rare disease caused by inactivating mutations in the SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8), a transmembrane transporter specific for thyroid hormones (T3 and T4). Description: MCT8 deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. Patients with the Allan–Herndon–Dudley syndrome present in infancy with hypotonia, weakness, and failure to gain weight. Mar 25, 2025 · Full description This therapeutic trial will be conducted in patients with MCT8 deficiency (also called Allan-Herndon-Dudley Syndrome (AHDS)), which is due to mutations in monocarboxylate transporter (MCT)8. In 2004, researchers discovered mutations in the SLC16A2 Allan-Herndon-Dudley syndrome is a disorder of brain development that causes moderate to severe intellectual disability and problems with movement. Clinical features include severe mental retardation, Dec 23, 2016 · This is illustrated by patients with a defect in MCT8 function, resulting in the Allan– Herndon–Dudley syndrome (AHDS). There is also a chance that the test will find something that we do not understand. 925 Allan-Herndon-Dudley Syndrome Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes moderate to severe intellectual disability and problems with movement. A rare X-linked syndromic intellectual disability with neuromuscular involvement characterized by a varying degree of neurodevelopmental delay including hypotonia, hypokinesia, dystonia and spasticity, and a wide range of clinical sequelae secondary to chronic peripheral thyrotoxicosis. Location: University of Miami, Miller School of Medicine, United States, Florida Principal Investigator: Roy E Weiss, M. This condition, which occurs exclusively in males, disrupts development from before birth. People with this disorder have developmental delay, poor head control, low muscle tone, and unclear or no speech. The syndrome results from mutations in the SLC16A2 gene, impacting thyroid hormone distribution in the brain. Individuals affected by this syndrome enjoy communicating with people even though their ability to talk is limited Sep 1, 2023 · Learn more about Allan-Herndon-Dudley syndrome, including research studies from ClinicalTrials. This shows what my twins would be faced with if not treated like they are being Allan–Herndon–Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which X-linked MCT 8 mutations cause Allan-Herndon-Dudley syndrome (AHDS), characterized by severe developmental delay and specific thyroid function abnormality. The long-term prognosis of Allan-Herndon-Dudley syndrome remains uncertain. Explore the causes, frequency, inheritance, and genetic testing information for this condition. Affected males also present with muscle hypoplasia, generalized muscle weakness, and limited speech. gov, patient support and advocacy resources, information from the Genetic and Rare Diseases Information Center, and additional resources. Mutation in this gene leads to a Oct 30, 2023 · Explore Allan-Herndon-Dudley syndrome (AHDS), a rare genetic disorder affecting the nervous system. Allan-Herndon-Dudley syndrome (AHDS) is a brain development disorder that causes severe intellectual disability and movement problems almost exclusively in males. MCT8 deficiency leads to significant lifelong disability, and life expectancy may be reduced due to complications, especially from feeding or respiratory issues. Here are some key points about the condition: Genetic Basis Inheritance: AHDS is caused by mutations in the SLC16A2 gene, which is located on the X chromosome. It is considered an ultra-rare disorder. The report describes a 2-y-old boy who presented with severe developmental delay, generalized hypotonia and thyroid function abnormality (high F … AllanHerndonDudley syndrome (AHDS) is a rare genetic disorder that primarily affects males and is characterized by neurological symptoms, developmental delays, and various physical abnormalities. The report describes a 2-y-old boy who presented with severe developmental delay, generalized hypotonia and thyroid function abnormality (high FT3, low FT4 and normal TSH) suggesting a form of impaired thyroid hormone sensitivity. Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. Mar 9, 2010 · Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, hypokinesia, masked facies), and seizures Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. Dudley, and C. ml m3lvp ijne68 7ot icmy7g zsr 5kvi 6x8gtie nvo l7e