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Autosomal Dominant Mental Retardation Type 24

Autosomal Dominant Non-Syndromic Intellectual Disability Type 24


Presentation

  • This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility.[diapedia.org]
  • Cardiac conduction defects, pulmonic stenosis, and hypertrophic cardiomyopathy are often (85%) present. Cognitive defects are present in 30% of patients and some individuals have been described as mentally retarded.[disorders.eyes.arizona.edu]
  • However, some electroclinical analogies were present.[tiptiktak.com]
  • Patients with ataxia as presenting symptom 159 (38%) Patients with a movement disorder as presenting symptom 123 (29%) Parkinsonism 78 Dystonia 20 Postural or intention upper-limb tremor 10 Head tremor 6 Chorea 5 Myoclonus 4 Akathisia 1 Patients with[movementdisorders.org]
  • Organized alphabetically, the book presents brief, bulleted points on disease topics in a consistent 3-column format. All topics are evidence-based and include cited evidence-based references.[books.google.ro]
Recurrent Infection
  • The risk factors for the spontaneous development are currently unknown Some major symptoms of the disorder include characteristic facial features, such as upslanted eyes, broad nasal bridge, cleft palate, congenital cardiac defects, recurrent infections[dovemed.com]
Sore Throat
  • The disease is characterized by a slight increase in temperature, sore throat, lethargy and a rash of short duration. Greatest hazard to the fetus is during the second and third month.[encyclopedia.com]
Neonate-Onset
  • […] disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal-onset[se-atlas.de]

Workup

  • Many will go undiagnosed until maturity as adults undergoing infertility workups. Fetuses are typically identified during amniocentesis performed for advanced maternal age. They are not normally identified because of an abnormal ultrasound finding.[chw.org]
  • […] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup[eyewiki.aao.org]

Treatment

  • Treatment There is no cure for PKD , but treatments can relieve symptoms and extend life expectancy. Surgical treatments can reduce or drain the cysts and relieve pain. Pain medications can also help relieve the discomfort.[kidneypedia.net]
  • Treatment Treatment Options: Standard congenital glaucoma treatments can be applied.[disorders.eyes.arizona.edu]
  • August 24, 2017 Bosutinib treatment was associated with a 66% decrease in the annual rate of kidney enlargement.[renalandurologynews.com]
  • Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed.[emedicine.medscape.com]
  • SLE: systemic lupus erythematosus SSRI: selective serotonin reuptake inhibitor TD: tardive dyskinesia TS: Tourette syndrome Objectives After completing this article, readers should be able to: Describe the prevalence of tic disorder Characterize the treatment[pedsinreview.aappublications.org]

Prognosis

  • […] symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE .[dovemed.com]
  • Diagnosis/ prognosis: There is no treatment or cure for Huntington’s Disease, and the patient eventually becomes completely dependent on others for daily functioning.[who.int]
  • Penetrating keratoplasty (PK) may be considered; however, PK alone has a poor prognosis, probably due to the primary limbal stem cell insufficiency.[eyewiki.aao.org]
  • When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition.[emedicine.medscape.com]
  • Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan. Nephron. 1998;80:421–7. PubMed CrossRef Google Scholar 17. Torres VE, Wang X, Qian Q, Somlo S, Harris PC, Gattone VH.[link.springer.com]

Etiology

  • 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]
  • Medical genetics deals with the etiology and pathogenesis of human diseases that are at least partially genetic in origin, along with their prediction and prevention.[accessmedicine.mhmedical.com]
  • Etiology • Degenerative – MSA, Progressive myoclonic epilepsy • Stroke – cerebellar, thalamic, brainstem, pontomedullary junction, lesions causing ataxic hemiparesis • Tumors- Medulloblastoma, Astrocytoma, Ependymoma, Hemangioblastoma, Metastasis, Meningioma[slideshare.net]
  • Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies.[reviewofophthalmology.com]
  • Among the genetic ones, mental retardation is etiologically heterogeneous and usually linked to syndromic forms. There are still few known genes associated with this phenotype, although for some disorders they are well established.[siicsalud.com]

Epidemiology

  • Until the advent of epidemiological studies, this question had been difficult to answer.[acnp.org]
  • The molecular epidemiology of cystic fibrosis ** pdf, 89kb Diagnosis/ prognosis: People with CF have a variety of symptoms including: very salty-tasting skin; persistent coughing, at times with phlegm; wheezing or shortness of breath; an excessive appetite[who.int]
  • Epidemiology Aniridia is seen in approximately 1.8/100 000 live births. [4] The incidence ranges from 1:40 000 to 1:100.000.[eyewiki.aao.org]
  • Epidemiology  ADCA- 5/100,000 FA 5/100,000  Among ADCAs  SCA 1 - 5.6 %  SCA 2 - 15.2 %  SCA 3 - 20.8 %  SCA 6 - 15.2 %  SCA 7 - 4.5 %  -ve F/H - 6.8% CAG repeats, 5.2% FA*  apparently recessive- 4.4% CAG rpts, 11.24% FA Moseley et al: Neurology[slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • Nikolopoulos TP: Auditory dyssynchrony or auditory neuropathy: understanding the pathophysiology and exploring methods of treatment. Int J Pediatr Otorhinolaryngol 2014;78:171-173.[karger.com]
  • Of course, these findings are difficult to explain from a pathophysiologic and genetic point of view, and more observations and more cases are necessary to validate our considerations. References [1] Firth HV, Hurst JA, Hall JG, editors.[tiptiktak.com]
  • Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism Journal Neurological Sciences 1993,115:67-70 (IF 2.080) 53) MALANDRINI A, DE STEFANO N, DOTTI MT, VECCHIONE V, FEDERICO A: Sensory-motor hereditary neuropathy with early onset[docplayer.net]

Prevention

  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Prevention of Birth Defects In the past ten years, there have been significant strides in understanding ways to prevent some birth defects.[encyclopedia.com]
  • Medical genetics deals with the etiology and pathogenesis of human diseases that are at least partially genetic in origin, along with their prediction and prevention.[accessmedicine.mhmedical.com]
  • “Dose reductions and continued monitoring or limited use of bosutinib may be required to mitigate the occurrence of these AEs and prevent adverse effects on the kidney.” Reference Tesar V, Ciechanowski K, Pei Y, et al.[renalandurologynews.com]
  • Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions.[emedicine.medscape.com]

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