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Autosomal Recessive Primary Microcephaly 6

MCPH


Presentation

  • This variant is neither present in any single-nucleotide polymorphism or exome sequencing databases nor in a Pakistani control cohort.[ncbi.nlm.nih.gov]
  • This variant is neither present in any single nucleotide polymorphism or exome sequencing databases nor in a Pakistani control cohort.[infoscience.epfl.ch]
  • Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.[genecards.org]
  • The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature.[ghr.nlm.nih.gov]
  • Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. This presentation focuses on primary microcephaly.[bio116su12.pbworks.com]
Poor Feeding
  • The following are the most common symptoms of microcephaly (Microcephaly, 2012 ) : appearance of the baby's head is very small high-pitched cry poor feeding seizures increased movement of the arms and legs (spasticity) developmental delays mental retardation[bio116su12.pbworks.com]
Small Head
  • The term "microcephaly" comes from the Greek words for "small head." Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age.[ghr.nlm.nih.gov]
  • Read More on This Topic cephalic disorder: Microcephaly Microcephaly means “small head”; it is defined formally as a head circumference that is smaller than two… Two different types of microcephaly are recognized: primary and secondary.[britannica.com]
  • There were no dysmorphic features with the exception of a small head circumference at birth (28 cm). There was no history of seizures.[jpma.org.pk]
  • Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp.[en.wikipedia.org]
  • Abbreviations BG basal ganglia MSG microcephaly with simplified gyral pattern WM white matter Congenital microcephaly (a very small head at birth) can be divided into 2 major categories: primary and secondary (acquired).[ajnr.org]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
Suggestibility
  • Studies suggest that the proteins produced from many of these genes help regulate cell division in the developing brain. Mutations in any of the genes associated with MCPH impair early brain development.[ghr.nlm.nih.gov]
  • This suggests that inclusion of singletons in our analysis was not a major cause of error.[jmg.bmj.com]
  • We suggest that this term be avoided and that microcephaly be considered a characteristic sometimes associated with lissencephaly.[ajnr.org]
  • Evidence suggests that maternal alcohol consumption during pregnancy and poor nutrition may also contribute to primary microcephaly. Genetic factors also play a role.[britannica.com]
  • Thus, the most important and conserved part of microcephalin protein was deleted, which suggests that this mutation can be pathogenic in this patient.[jpma.org.pk]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • TREATMENT OPTIONS There is no treatment for microcephaly that can return a child's head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities.[bio116su12.pbworks.com]
  • Management and treatment There is no specific etiologic treatment. Physical and speech therapy may be beneficial. Seizures are usually stabilized with common anticonvulsants. Ritalin may reduce hyperactivity.[orpha.net]
  • Research is carried out in the home Department of Medical Genetics located on level 6 of the Addenbrooke’s Treatment Centre (Professor Eamonn Maher, Dr Serena Nik-Zainal, Dr Richard Sandford, Dr Leonardo Bottolo and Dr Marc Tischkowitz groups) and also[medgen.medschl.cam.ac.uk]

Prognosis

  • Prognosis Vital prognosis depends on severity and related manifestations but is generally good. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • The prognosis is variable, with some patients dying in infancy or early childhood. This disorder has an onset in-utero and can be observed by week 32 of pregnancy.[cags.org.ae]
  • […] head circumference more than three standard deviations below the mean for the age and sex. [6] There is no specific treatment that returns the head size to normal. [1] In general, life expectancy for individuals with microcephaly is reduced and the prognosis[en.wikipedia.org]

Etiology

  • Management and treatment There is no specific etiologic treatment. Physical and speech therapy may be beneficial. Seizures are usually stabilized with common anticonvulsants. Ritalin may reduce hyperactivity.[orpha.net]
  • While there is currently no specific etiological treatment, patients may benefit from physical therapy as well as speech and occupational therapy. Genetic counselling may be beneficial to patients’ families.[cags.org.ae]
  • Actually in most of the cases, genetic mechanisms including cytogenetic abnormalities, single-gene disorders, and undetermined etiology syndromes are the major causes of the disease. 3 Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous[jpma.org.pk]
  • A few previous reviews based on the genetics and etiology of microcephaly have been published, 1, 22, 23 and the presence of a simplified gyral pattern in association with microcephaly has been discussed by many authors. 21, 24 However, to our knowledge[ajnr.org]

Epidemiology

  • Relevant External Links for MCPH1 Genetic Association Database (GAD) MCPH1 Human Genome Epidemiology (HuGE) Navigator MCPH1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MCPH1 No data available for Genatlas for MCPH1 Gene Sex-dependent[genecards.org]
  • Summary Epidemiology Exact prevalence of non-syndromic microcephaly is not known. MCPH is more common in Asian and Middle Eastern populations than in Caucasians, in whom an annual incidence of 1/1,000,000 is reported.[orpha.net]
  • Carter gives the traditional account of the relevant genetic epidemiology in a section entitled “Frequency and dangers of recessive mutant genes” ( 5 ).[atm.amegroups.com]
  • ., 2010, Primary microcephaly in Hungary: epidemiology and clinical features., Acta. Paediatr., 99, 690-693. [4] Darvish, H., Esmaeeli-Nieh, S., Monajemi, G. B., Mohseni, M., Ghasemi-Firouzabadi, S., Abedini, S.[article.sapub.org]
Sex distribution
Age distribution

Pathophysiology

  • Microcephaly is the only proven malformation, or congenital abnormality, found in the children of Hiroshima and Nagasaki. [26] Other relations [ edit ] Intracranial volume also affects this pathology, as it is related with the size of the brain. [27] Pathophysiology[en.wikipedia.org]

Prevention

  • […] i 510 Phosphoserine 1 Modified residue i 615 Phosphoserine 1 Modified residue i 657 Phosphoserine 1 Post-translational modification i Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading to its degradation and preventing[uniprot.org]
  • Centers for Disease Control and Prevention. 2016-01-15. Archived from the original on 2016-01-18. Retrieved 2016-01-17. Beth Mole (2016-01-17). "CDC issues travel advisory for 14 countries with alarming viral outbreaks]". Ars Technica. Condé Nast.[en.wikipedia.org]

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