Presentation
We present a structural anomaly of the cerebellum, which we believe has not been previously reported. A 16-month-old girl presented to the pediatric outpatient department with some delayed developmental milestones. [ajnrblog.org]
The nosology of cerebellar degenerations, which has been the subject of much debate for over a century, is presently a dynamic field, with new entities being recognized and old "classic ataxias" being redefined in the light of new genetic evidence. [books.google.com]
Cerebral atrophy is the morphological presentation of brain parenchymal volume loss that is frequently seen on cross sectional imaging. [radiopaedia.org]
Infants with thalamic hemorrhage do not usually present with ‘full blown’ HIE ( Fig. 9.21 ). [mrineonatalbrain.com]
The documents contained in this web site are presented for information purposes only. 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]
Entire Body System
- Anemia
KORNZWEIG ACIDEMIE ORGANICHE E ACIDOSI LATTICHE PRIMITIVE RCG040 ACONDROGENESI RNG050 ACONDROPLASIA RNG050 AGAMMAGLOBULINEMIA RCG160 ALANINEMIA RCG040 ALBINISMO RCG040 ALCAPTONURIA RCG040 ALEXANDER MALATTIA DI RFG010 AMAUROSI CONGENITA DI LEBER RFG110 ANEMIA [laprevidenza.it]
Neurologic
- Ataxia
Clinical description Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorders), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia [orpha.net]
ataxia associated with another disorder Cerebellar ataxia due to alcoholism References to Index of Diseases and Injuries The code 334.4 has the following ICD-9-CM references to the Index of Diseases and Injuries Ataxia, ataxy, ataxic 781.3 cerebellar [healthprovidersdata.com]
Hereditary ataxias. Myo Clin Proc. 2000;75:475-90. Koeppen AH. The hereditary ataxias. J Neuropathol Exp Neurol. 1998;57:531-43. JOURNAL ARTICLES Subramony SH, Hernandez D, Adams A, et al. [rarediseases.org]
Convert to ICD-10-CM : 334.2 converts approximately to: 2015/16 ICD-10-CM G11.0 Congenital nonprogressive ataxia Or: 2015/16 ICD-10-CM G11.2 Late-onset cerebellar ataxia Applies To Cerebellar ataxia: Marie's Sanger-Brown Dyssynergia cerebellaris myoclonica [icd9data.com]
[…] in diseases classified elsewhere 2016 2017 2018 2019 Billable/Specific Code Manifestation Code Code First underlying disease, such as: celiac disease (with gluten ataxia) ( K90.0 ) cerebellar ataxia (in) neoplastic disease (paraneoplastic cerebellar [icd10data.com]
- Cerebellar Ataxia
ataxia associated with another disorder Cerebellar ataxia due to alcoholism References to Index of Diseases and Injuries The code 334.4 has the following ICD-9-CM references to the Index of Diseases and Injuries Ataxia, ataxy, ataxic 781.3 cerebellar [healthprovidersdata.com]
Convert to ICD-10-CM : 334.2 converts approximately to: 2015/16 ICD-10-CM G11.0 Congenital nonprogressive ataxia Or: 2015/16 ICD-10-CM G11.2 Late-onset cerebellar ataxia Applies To Cerebellar ataxia: Marie's Sanger-Brown Dyssynergia cerebellaris myoclonica [icd9data.com]
Code G11.9 Hereditary ataxia, unspecified 2016 2017 2018 2019 Billable/Specific Code Applicable To Hereditary cerebellar ataxia NOS Hereditary cerebellar degeneration Hereditary cerebellar disease Hereditary cerebellar syndrome in alcoholism G31.2 alcoholic [icd10data.com]
NIH: National Institute of Neurological Disorders and Stroke Acute cerebellar ataxia Olivopontocerebellar atrophy [ Read More ] [icdlist.com]
Summary Epidemiology This group encompasses a large number of rare diseases, the most frequent in the Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia [orpha.net]
- Tremor
[…] onset Young adult: SCA 1, 2, 3, 21 Older adult: SCA 6, 35, 36 ; 37 Childhood: SCA 2, 7, 13, 27, DRPLA, 25 Anticipation Some SCA: 1, 2, 3, 6, 7, 8, 10, 12, 17, 22, DRPLA More prominent in SCA 7 & DRPLA Ataxia Truncal: SCA 1 ; 2 ; 6 ; 14 ; 28 ; 31 ; 36 Tremor [neuromuscular.wustl.edu]
Symptoms - Cerebellar parenchymal degeneration * Deterioration of the cerebellum * Slurred speech * Tremor of lower extremities * Incoordination of upper extremities Causes - Cerebellar parenchymal degeneration Not supplied. [checkorphan.org]
They occur in the young to middle-aged and are characterized by ataxia, dysarthria, and tremors similar to those of parkinsonism. progressive neuromuscular atrophy hereditary muscular atrophy beginning in the muscles supplied by the fibular (peroneal) [medical-dictionary.thefreedictionary.com]
[…] enlargement of the ventricles and dilation of the cortical sulk can also occur the "shaking palsy" is a progressive, degenerative disease characterized by stooped posture stiffness and slowness of movement fixed facial expression involuntary rhythmic tremor [quizlet.com]
- Nystagmus
[…] prominent in SCA 7 & DRPLA Ataxia Truncal: SCA 1 ; 2 ; 6 ; 14 ; 28 ; 31 ; 36 Tremor Head or Hand: SCA 8, 12, 15-16, 19, 27 Palatal: SCA 20 Normal lifespan: SCA 6, 11 Eye 60 Slow saccades Early/prominent: SCA 2, 7 Late: SCA 1, 3, 28 Very rarely: SCA 6 Nystagmus [neuromuscular.wustl.edu]
Mild truncal ataxia was observed, but there was no nystagmus. On CT examination, she was found to have a bony outpouching with a small defect in the bone outline on the left side. [ajnrblog.org]
- Cerebellar Disease
[…] ataxia in diseases classified elsewhere 2016 2017 2018 2019 Billable/Specific Code Manifestation Code Code First underlying disease, such as: celiac disease (with gluten ataxia) ( K90.0 ) cerebellar ataxia (in) neoplastic disease (paraneoplastic cerebellar [icd10data.com]
Treatment
Management and treatment For most ARCA there is no specific drug treatment, except for coenzyme Q10 deficiency and abetalipoproteinemia. The documents contained in this web site are presented for information purposes only. [orpha.net]
Problems with the cerebellum include Cancer Genetic disorders Ataxias - failure of muscle control in the arms and legs that result in movement disorders Degeneration - disorders caused by brain cells decreasing in size or wasting away Treatment of cerebellar [icdlist.com]
This capability could have an impact on selection of the most appropriate treatment in individual cases. [ajnrdigest.org]
"Apparent Cerebral Atrophy in Patients on Treatment with Steroids". Developmental Medicine & Child Neurology. 22 (4): 502–506. doi : 10.1111/j.1469-8749.1980.tb04355.x. [en.wikipedia.org]
Treatment - Cerebellar parenchymal degeneration Not supplied. [checkorphan.org]
Prognosis
Prognosis - Cerebellar parenchymal degeneration Not supplied. Treatment - Cerebellar parenchymal degeneration Not supplied. [checkorphan.org]
Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. [orpha.net]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
[…] loss by irreversibly injured tissue Progressive Non-Familial Adult Onset Cerebellar Degeneration Chronic Vertebrobasilar Insufficiency Vertebral artery stenosis, posterior circulation ischemia Posterior circulation ischemia of hemodynamic or embolic etiology [neupsykey.com]
Etiology These diseases are caused by mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor [orpha.net]
Parenchymal hemorrhages in the neonate behave slightly differently depending on their size and this may reflect different etiology. [mrineonatalbrain.com]
Epidemiology
Summary Epidemiology This group encompasses a large number of rare diseases, the most frequent in the Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia [orpha.net]
Pathophysiology
Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet. 2000;1:281-328. Evidente VG, Gwinn-Hardy KA, Caviness JN, et al. Hereditary ataxias. Myo Clin Proc. 2000;75:475-90. Koeppen AH. The hereditary ataxias. [rarediseases.org]
[…] brain stem nuclei will form. 3 The cerebellar vermis is formed on fusion of the developing hemispheres when they meet superiorly at the midline during the ninth gestational week; fusion then continues inferiorly as the hemispheres grow. 1 The possible pathophysiology [ajnrblog.org]
Prevention
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Prevention - Cerebellar parenchymal degeneration Not supplied. Diagnosis - Cerebellar parenchymal degeneration signs and symptoms of Parenchymatous cortical degeneration of cerebellum may vary on an individual basis for each patient. [checkorphan.org]
In hydrocephalus, the increase in volume happens due to the CSF itself. [12] Treatment and prevention [ edit ] Unfortunately, cerebral atrophy is not usually preventable, however there are steps that can be taken to reduce the risks such as controlling [en.wikipedia.org]
[…] likely that they will be used as predictors of treatment response and disease progression in the near future and will have a major impact on treatment decisions, mainly related to a new generation of MS drugs that seem to have a beneficial effect on preventing [ajnrdigest.org]