Presentation[edit] Onset of symptoms is normally within the first year of life with truncal ataxia and seizures. The head is small (microcephaly). [en.wikipedia.org]

Other symptoms that may not be present in all boys but are present in some include hypotonia (low muscle tone), gastrointestinal problems (such as GERD), regressions (loss of previously learned skills like walking), symptoms of Angelman syndrome (such [csa-cares.org]

At present, we have enrolled approximately 40 families internationally which now extends across 14 countries and is the largest cohort of families with this condition. [brown.edu]

Acronym MRXSCH Synonyms Mental retardation microcephaly epilepsy and ataxia syndrome MRXS-Christianson X-linked Angelman-like syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational [uniprot.org]

Signs and Symptoms of Christianson Syndrome Symptoms of Christianson Syndrome usually present during infancy, but they can even present in older children. The syndrome usually affects the nervous system. [medindia.net]

• Developmental Disorder

  DISEASE: Christianson syndrome Entry H01914 Disease Name Christianson syndrome Supergrp X-linked syndromic intellectual developmental disorder [DS:H00658] Description Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by [kegg.jp]

  Morrow is now at Brown University in Providence, Rhode Island, where he is Associate Professor and the founding director of the Developmental Disorders Genetics Research Program (DDGRP) at the Emma Pendleton Bradley Hospital. [csa-cares.org]

  […] disability NHE6 SLC9A6 X-linked developmental disorder [jneurodevdisorders.biomedcentral.com]

  Taken together, no matter the type of SLC9A6 gene mutation is frameshift mutations or SNVs, the clinical phenotype mainly characterized by CS and developmental disorder. [frontiersin.org]

• Feeding Difficulties

  Swallowing difficulty [ more ] 0002015 Dystonia 0001332 Feeding difficulties in infancy 0008872 Gait ataxia Inability to coordinate movements when walking 0002066 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Inappropriate [rarediseases.info.nih.gov]

  Genetic metabolic diseases can lead to feeding difficulty, developmental delay, convulsions, specific facial features, electrolyte abnormalities, damage of important organs. Physical examination showed rash and hepatosplenomegaly. [frontiersin.org]

• Difficulty Walking

  Symptoms related to nervous system: Developmental delay Difficulty walking or standing Seizures Difficulty in logical thinking, reasoning Uncontrolled drooling Difficulty in maintaining balance and coordination Inability to speak Difficulty swallowing [medindia.net]

• Long Narrow Face

  Common facial abnormalities include:[citation needed] Long narrow face Prominent nose Prominent jaw Large ears Open mouth Thick eyebrows Other common features include:[citation needed] Uncontrolled drooling Abnormal eye movements The associated intellectual [en.wikipedia.org]

  Other features seen in many people with Christianson syndrome include a small head size (microcephaly); a long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled drooling; and abnormal eye movements. [encyclopedia.pub]

  narrow face with prominent nose, jaw and ears Abnormal eye movements Open mouth Small size of the head(Microcephaly) Autistic spectrum disorder Diagnosis and Treatment of Christianson Syndrome Molecular genetic testing confirms the diagnosis of Christianson [medindia.net]

• Global Developmental Delay

  developmental delay 0001263 Happy demeanor 0040082 Hyperkinetic movements Muscle spasms 0002487 Intellectual disability, progressive Mental retardation, progressive Progressive mental retardation [ more ] 0006887 Intellectual disability, severe Early [rarediseases.info.nih.gov]

  Introduction Christianson syndrome (CS) is a novel, X-linked developmental brain disorder, clinically recognized by the symptoms of global developmental delay, intellectual disability, ataxia, epilepsy, non- or minimally verbal status, ophthalmoplegia [jneurodevdisorders.biomedcentral.com]

  A loss of function mutation in the SLC9A6 gene (Xq26.3) is responsible for Christianson syndrome (CS), which is characterized by severe global developmental delay, developmental regression, acquired microcephaly, intractable epilepsy, ataxia, ophthalmoplegia [nature.com]

• Hyperactivity

  These include moderate to severe intellectual disability, epilepsy, inability to walk and talk or difficulty doing so, attenuated head and brain growth, and hyperactivity. [news.brown.edu]

Treatment of Christinanson Syndrome: No specific treatment is available for Christianson syndrome. Symptomatic treatment with supportive care is the main stay of management for this condition. Prognosis is poor. [medindia.net]

From that point forward, it has been the goal of Debbie and her family to support the research into the cause and treatment for this disorder as well as raise awareness both nationally and internationally. [csa-cares.org]

These results may guide treatment development in CS, including gene therapy strategies wherein our data suggest that response to treatment may be dictated by the class of mutation. [stm.sciencemag.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

What is the prognosis of Christianson syndrome? Because this is a newly recognized genetic disorder and a relatively small number of boys have been diagnosed, we cannot fully predict the prognosis. [csa-cares.org]

Since the presence of a genetic diagnosis may reveal unique etiology of neuronal injury, and tau deposition specifically in this Christianson Syndrome pedigree, such genetic causes and underlying pathophysiology have the potential to guide treatment in [n.neurology.org]

In order to clarify the etiology and clinical diagnosis, the patient underwent physical examination and clinical auxiliary examination during hospitalization, including rehabilitation training treatment, three usual medical practices, blood biochemistry [frontiersin.org]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

[citation needed] Epidemiology[edit] The prevalence is not known but this is considered to be a rare disease. [en.wikipedia.org]

The research is significant to AS because: (1) the discovery of functional linkages between genes associated with AS and other neurogenetic disorders develops more unified pathogenic mechanisms and broadens pathophysiological mechanisms and treatment [angelman.org]

Since the presence of a genetic diagnosis may reveal unique etiology of neuronal injury, and tau deposition specifically in this Christianson Syndrome pedigree, such genetic causes and underlying pathophysiology have the potential to guide treatment in [n.neurology.org]

To understand the mechanisms involved in disease pathophysiology and to identify potential treatments, Lizarraga et al. used five induced pluripotent stem cell (iPSC) lines from patients with CS harboring different mutations. [stm.sciencemag.org]

Another report has also demonstrated downregulation of SLC9A6 expression in the autism postmortem brain [4], indicating that the pathophysiology may be related to a subset of autism. [jneurodevdisorders.biomedcentral.com]

Each type of epilepsy has specific clinical manifestations and distinct underlying pathophysiologic or genetic mechanisms. [frontiersin.org]

It prevents it from becoming too acidic or too alkali. [news-medical.net]

“If we could understand the biological mechanism that leads to that loss, and we can prevent it by developing a treatment, then these kids will remain further ahead.” [news.brown.edu]