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Autosomal Recessive Primary Microcephaly Type 6

MCPH6


Presentation

  • 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]
  • This variant is neither present in any single-nucleotide polymorphism or exome sequencing databases nor in a Pakistani control cohort.[ncbi.nlm.nih.gov]
  • Seizures may be present (10%). Delay in early motor milestones and speech delay are common. Most patients have hyperactive behavior. Etiology Ten subtypes based on the 11 genes have been differentiated.[orpha.net]
  • Case report The case of a 2.4-year-old girl with developmental delay and small head circumference is presented. History didn\\\'t reveal any other family member with a similar phenotype (Figure-1).[jpma.org.pk]
Physician
  • Children born with microcephaly require frequent examinations and diagnostic testing by their physician to monitor the development of the head as the child grows.[bio116su12.pbworks.com]
  • Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition.[varsome.com]
High-Pitched Cry
  • Other symptoms may include poor appetite, seizures, an unusually high-pitched cry, involuntary muscle contractions, poor balance and motor function, facial deformities, hearing loss, and poor vision.[britannica.com]
  • 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]
Crying
  • "When life gives you a hundred reasons to cry, show life that you have a thousand reasons to smile." REFERENCES Mahmood, S., Ahmad, W., & Hassan, M. (2011).[bio116su12.pbworks.com]
  • Other symptoms may include poor appetite, seizures, an unusually high-pitched cry, involuntary muscle contractions, poor balance and motor function, facial deformities, hearing loss, and poor vision.[britannica.com]
Turkish
  • Interestingly, none of our northern Pakistani families link to the MCPH4 locus, 10 which was identified in a Turkish population.[jmg.bmj.com]
  • ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor-2 gene 20q13.13 We studied 2 Turkish families with autosomal recessive periventricular heterotopia and microcephaly, and described genetic linkage between them at a single locus on chromosome[walshlab.org]
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]
Meningism
  • Genetic chromosome disorders Genetic single gene disorders Certain prenatal infections affecting te fetus Cerebrovascular accident in the fetus stroke) Severe birth asphyxia (prolonged lack of oxygen to the brain) Severe illness or infection such as meningitis[bio116su12.pbworks.com]
  • […] genitalia Aicardi–Goutières syndrome Ataxia telangiectasia Cohen syndrome Cockayne syndrome Acquired Disruptive injuries Traumatic brain injury Hypoxic-ischemic encephalopathy Ischemic stroke Hemorrhagic stroke Infections Congenital HIV encephalopathy Meningitis[en.wikipedia.org]
Dysarthria
  • All had normal early motor milestones but some had delay in speech (in acquisition of vocabulary and grammar but without dysarthria), none had severe or profound mental retardation, and none had epilepsy.[jmg.bmj.com]
Profound Mental Retardation
  • All had normal early motor milestones but some had delay in speech (in acquisition of vocabulary and grammar but without dysarthria), none had severe or profound mental retardation, and none had epilepsy.[jmg.bmj.com]

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

  • 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]
  • 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]
  • 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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