Symptoma

X-Linked Mental Retardation Type 1

MRX18

Abstract Two families with nonspecific X-linked mental retardation (XLMR) are presented. In the first family, MRX49, 5 male patients in 2 generations showed mild to moderate mental retardation. [ncbi.nlm.nih.gov]

Maternally-transmitted missense variants in ATRX have been identified in male ASD probands (PMIDs 23352163, 25533962), as well as a female ASD proband with a brother presenting with ADHD (PMID 24690944); however, segregation of these variants in multipex [gene.sfari.org]

The present study presents a case of a Chinese male patient affected by recessive XLI and CN-I, which were confirmed by DNA quantitative polymerase chain reaction (PCR) and single nucleotide polymorphism (SNP) array analysis. [spandidos-publications.com]

  • Strabismus

    Features observed in several patients are short stature, microcephaly, strabismus, hypermetropia, diastema of teeth, cryptorchism (progressive) spasticity, epilepsy, and behavioral or mood problems. [latunisiemedicale.com]

  • Short Arm

    Flanking markers were DXS8012 and DXS991, situating the MRX50 gene at Xp11.3-Xp11.21, in the pericentromeric part of the short arm of the X chromosome. [ncbi.nlm.nih.gov]

    DISCUSSION The distal region of the short arm of the X-chromosome has a particularly high frequency of interstitial deletions. [medicaljournals.se]

    A previous investigation of the MRX78 family revealed linkage to the short arm of chromosome X (Xp11.4-p11.23; de Vries et al., 2002 ). [journal.frontiersin.org]

    et al ( 2003 ) Duplication of the short arm of the X chromosome in mother and daughter. Human Genetics, 91, 395 – 400. Tariverdian, G. & Vogel, F. ( 2000 ) Some problems in the genetics of X-linked mental retardation. [bjp.rcpsych.org]

    The disease is caused by mutations in the STS gene that is located on the short arm of the X-chromosome (Xp22.3) ( 4 ). Approximately 90% of patients with XLI have large deletions involving the entire STS gene and flanking regions ( 5, 6 ). [spandidos-publications.com]

  • Normal Stature

    Nine living affected males have an IQ between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. [ncbi.nlm.nih.gov]

  • Suggestibility

    In MRX3, MRX28, but also in MRX16, no alteration of RABGDIA has been found, thus suggesting the existence of at least two MRX genes in distal Xq28. [ncbi.nlm.nih.gov]

  • Distractibility

    Alternatively, it can be aggravated by mental stress (such as counting backwards) or during a distracting activity (such as walking). Resting tremors are often associated with Parkinson's disease. [forgottendiseases.org]

    The patient is highly distractible and generally has difficulty in learning new information. He or she can manage self-care activities with assistance. Memory is impaired and verbalization is often inappropriate. VI. [tbinrc.com]

  • Stroke

    DEAR PAT: My grandfather recently experienced a massive hemorrhagic stroke, from which the doctors predicted that he would not survive. He was in a coma for almost two weeks and much to everyone's surprise "woke up" one day. [tbinrc.com]

Genetic testing: Following inconclusive results from our standardized laboratory, metabolic and genetic workup for patients with MR an array comparative genomic hybridization (aCGH) was performed. [thieme-connect.com]

Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed. [emedicine.medscape.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

The text concludes with a clinically practical discussion of carrier detection, presymptomatic diagnosis, and treatment of various genetic diseases through enzyme therapy, substrate deprivation, and the use of hemapoietic stem cells. [books.google.com]

However, the natural history, severity and clinical aspect of MRX often vary from one sibling to another in a given family Prognosis - Mental retardation- X-linked- nonspecific Not supplied. [checkorphan.org]

When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. [emedicine.medscape.com]

Talk with his physician about his condition and prognosis. In order to qualify for SSDI, you will need a doctor to describe the patient's problems and state that he is unable to work. 2. Talk to your son or his former employers. [tbinrc.com]

The etiology remains unknown in up to 80% of cases with mild intellectual disability. Depending on the underlying etiology, the recurrence risk can vary between the background and 50%. [dnatesting.uchicago.edu]

Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. [books.google.com]

Disease relevance of VCX The revelation that CRI-S232 contains VCX offers a more precise description of the genetic etiology of X-linked ichthyosis : it results from aberrant recombination between VCX gene arrays that flank the STS locus [1]. [wikigenes.org]

Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser 1978; 14: 127-37. 8. [jpma.org.pk]

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 1380, 42-77. [autismkb.cbi.pku.edu.cn]

Epidemiology of lissencephaly type 1. Neuroepidemiology 1991.10: 200-4. Guerrini R and Filippi T. Neuronal migration disorders, genetics and epileptogenesis. J Child neurol. 2005;20. 287-299. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. [malattierare.toscana.it]

Relevant External Links for GDI1 Genetic Association Database (GAD) GDI1 Human Genome Epidemiology (HuGE) Navigator GDI1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: GDI1 No data available for Genatlas for GDI1 Gene Mutations in GDI1 [genecards.org]

The epidemiology of fetal alcohol syndrome and partial FAS in a South African community. Drug Alcohol Depend 2007;88(2-3):259-271. [ ] 3. May PA, Gossage JP, Marais A-S, et al. [samj.org.za]

Hall DA & O'Keefe JA (2012) Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment. Tremor Other Hyperkinet Mov (NY) 2012;2: tre-02-56-352-1. doi: 10.7916/D8HD7TDS. [forgottendiseases.org]

References Depue R: Cryptorchidism, an epidemiologic study with emphasis on the relationship to central nervous system dysfunction. Teratology 37:301-305 (1988). [karger.com]

The pathophysiological processes of MR in the human brain are very complex and, have most probably started already in early pregnancy. [latunisiemedicale.com]

Hall DA & O'Keefe JA (2012) Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment. Tremor Other Hyperkinet Mov (NY) 2012;2: tre-02-56-352-1. doi: 10.7916/D8HD7TDS. [forgottendiseases.org]

Xq13.3, encoding a SWI/SNF-like chromatin remodeling protein. 1 The ATRX protein has 2 functionally important domains: the zinc-finger motif (ADD) and the highly conserved chromatin-remodeling domain, where the ATRX mutations cluster. 2 Although the pathophysiologic [ajnr.org]

Prevention - Mental retardation- X-linked- nonspecific Not supplied. Diagnosis - Mental retardation- X-linked- nonspecific to date the diagnosis of MRX is only considered in cases of typical X-linked familial recurrence. [checkorphan.org]

Reduced recombination around the centromere prevents precise mapping. The localisation of MRX4 overlaps with that of several other MRX families. [sparrho.com]

Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]

Many questions remain regarding X-linked mental retardation, its causes, diagnosis, and prevention. In this article we try to give an overview about the status of our present knowledge and the questions to be answered in the future. [link.springer.com]