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Jankovic Rivera Syndrome

Jankovic-Rivera syndrome


Presentation

  • […] myoclonus-progressive distal muscular atrophy syndrome Jankovic-Rivera syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: G25.3 OMIM: 159950 UMLS: C1834569 MeSH: - GARD: 3044 3875 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • An expert author team presents more than 3,000 high-quality images - nearly all in full color - to provide unmatched visual guidance on the microscopic and gross pathologic presentation of a full range of neurologic diseases.[expertconsult.inkling.com]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • After analyzing the total data, 4% (n 6) of professionals presented BS at the time of the study, of which five out of the six staff members of the oncology unit.[scielo.br]
Weakness
  • Research of Jankovic Rivera Syndrome has been linked to Weakness, Muscular Atrophy, Muscle Weakness, Atrophy, Myoclonus.[novusbio.com]
  • Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline.[ncbi.nlm.nih.gov]
  • Symptoms - Jankovic Rivera syndrome * Progressive distal muscle weakness * Progressive distal muscle wasting * Myoclonic jerks * Dementia * Abnormal walk * Speech defect Causes - Jankovic Rivera syndrome Not supplied.[checkorphan.org]
  • Get Update Overview Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal[diseaseinfosearch.org]
  • The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body.[ghr.nlm.nih.gov]
Fatigue
  • Tremor can further decrease HRQoL by interfering with ADL, feeding, drinking, and hygiene. 56 Although depression, fatigue, and disability level are independent predictors of HRQoL in MS, 55 the effects of Vim-DBS have not been studied.[jnnp.bmj.com]
  • There are other organizational factors independent of the unit, such as fatigue due to lack of staff, communication deficit, substitute decision-making, role conflicts and insufficient vacation time.[scielo.br]
  • Deletion Syndrome Chromosome 4q- Syndrome chromosome 5q deletion syndrome Chromosome 6 Ring Syndrome Chromosome 7 Ring Syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xq Duplication Syndrome chronic atrial and intestinal dysrhythmia chronic fatigue[rgd.mcw.edu]
Difficulty Walking
  • After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls.[ghr.nlm.nih.gov]
Difficulty Walking
  • After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls.[ghr.nlm.nih.gov]
Crying
  • Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and[ncbi.nlm.nih.gov]
Respiratory Insufficiency
  • The disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency (summary by {4:Zhou et al., 2012}).[diseaseinfosearch.org]
Hoarseness
  • Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and[ncbi.nlm.nih.gov]
Subcutaneous Nodule
  • Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and[ncbi.nlm.nih.gov]
Muscle Weakness
  • Symptoms - Jankovic Rivera syndrome * Progressive distal muscle weakness * Progressive distal muscle wasting * Myoclonic jerks * Dementia * Abnormal walk * Speech defect Causes - Jankovic Rivera syndrome Not supplied.[checkorphan.org]
  • Research of Jankovic Rivera Syndrome has been linked to Weakness, Muscular Atrophy, Muscle Weakness, Atrophy, Myoclonus.[novusbio.com]
  • Get Update Overview Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal[diseaseinfosearch.org]
  • The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body.[ghr.nlm.nih.gov]
Proximal Muscle Weakness
  • Get Update Overview Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal[diseaseinfosearch.org]
Proximal Muscle Weakness
  • Get Update Overview Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal[diseaseinfosearch.org]
Atonic Seizures
  • SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor[ncbi.nlm.nih.gov]
Tremulousness
  • SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor[ncbi.nlm.nih.gov]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Prognosis - Jankovic Rivera syndrome Prognosis of Jankovic-Rivera syndrome: often the lifespan is reduced but some survive into their 60\'s Treatment - Jankovic Rivera syndrome Not supplied. Resources - Jankovic Rivera syndrome Not supplied.[checkorphan.org]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Treatment with clonazepam results in complete and lasting improvement of the myoclonus.[orpha.net]
  • Treatment with clonazepam resulted in complete and lasting improvement of the myoclonus.[doi.org]

Prognosis

  • Prognosis - Jankovic Rivera syndrome Prognosis of Jankovic-Rivera syndrome: often the lifespan is reduced but some survive into their 60\'s Treatment - Jankovic Rivera syndrome Not supplied. Resources - Jankovic Rivera syndrome Not supplied.[checkorphan.org]
  • A prospective, observational,longitudinal (over at least two decades) study wouldyield more objective information about the naturalcourse and prognosis of childhood-onset TS.[docslide.com.br]
  • Pedersen KF, Larsen JP, Tysnes OB, Alves G (2013) Prognosis of mild cognitive impairment in early Parkinson disease: the Norwegian Park West study. JAMA Neurol 70: 580–586. View Article Google Scholar 28.[journals.plos.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Professional Interests Clinical neurophysiology; Electroencephalography; Epilepsy; Infantile spasms; Sleep disorders; Etiology, pathophysiology and treatment of infantile spasms; Development of automated electrophysiological and video techniques for the[bcm.edu]
  • Depressive disorders all include nearly the same symptoms that vary at near duration, timing and presumed etiology.[nhha.org]
  • Evaluating the Etiologies of Burning Mouth Symptom in Patients of Shiraz Dental School from 2007 to 2015 .[wjgnet.com]
  • Differential diagnosis and etiology of tics. In: CohenDJ, Jankovic J, Goetz CG, editors. Tourette syndrome, Adv Neu-rol, Vol. 85. Philadelphia, PA: Lippincott Williams and Wilkins;2001. p 1529.19. Silay Y, Jankovic J.[docslide.com.br]

Epidemiology

  • Epidemiology of restless legs symptoms in adults. Arch Intern Med 2000; 160(14):2137-41. 2. Desautels A, Turecki G, Montplaisir J, et al.[siicsalud.com]
  • The epidemiology of Sjögren's syndrome. Clin Epidemiol. 2014;6(1):247-255. Manoussakis MN, Georgopoulou C, Zintzaras E, Spyropoulou M, Stavropoulou A, Skopouli FN, Moutsopoulos HM.[joralres.com]
  • The epidemiology of Sjögren's syndrome. Clin Epidemiol. 2014;6(1):247-255. 11. Manoussakis MN, Georgopoulou C, Zintzaras E, Spyropoulou M, Stavropoulou A, Skopouli FN, Moutsopoulos HM.[joralres.com]
  • Schrag A (2002) Epidemiology of movement disorders. In: Jankovic JJ, Tolosa E, eds. Parkinson’s disease and movement disorders. Philadelphia: Lippincott Williams & Wilkins; 73–89. 31.[journals.plos.org]
Sex distribution
Age distribution

Pathophysiology

  • Stroke: Pathophysiology, Diagnosis, and Management 6th edition by Grotta.[expertconsult.inkling.com]
  • Professional Interests Clinical neurophysiology; Electroencephalography; Epilepsy; Infantile spasms; Sleep disorders; Etiology, pathophysiology and treatment of infantile spasms; Development of automated electrophysiological and video techniques for the[bcm.edu]
  • Arnulf I (2012) REM sleep behavior disorder: motor manifestations and pathophysiology. Mov Disord 27: 677–689. View Article Google Scholar 4.[journals.plos.org]

Prevention

  • Prevention - Jankovic Rivera syndrome Not supplied. Diagnosis - Jankovic Rivera syndrome Not supplied.[checkorphan.org]
  • Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 100% Also called[medicbind.com]
  • Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 100% Health Topic[codelay.com]
  • Ways to prevent nosocomial infections include hand washing, ele-vating the patientрs head to prevent aspiration, and using narrow-spectrum antibiotic agents when indicated D.[buzzardsbrew.com]
  • The slightly lesser density of PNS myelin requires some adjustment of gradient composition to prevent loss of myelin.[ncbi.nlm.nih.gov]

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