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Action Myoclonus - Renal Failure Syndrome

AMRF


Presentation

  • Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic[orpha.net]
  • Acronym EPM4 Synonyms Action myoclonus-renal failure syndrome AMRF Myoclonus-nephropathy syndrome Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Werner Poewe, Joseph Jankovic Cambridge University Press, ٢٠‏/٠٢‏/٢٠١٤ - 471 من الصفحات Movement disorders - ranging from parkinsonism to a variety of hyperkinetic disorders, such as tremors, dystonic, chorea and myoclonus - can be the presenting or a[books.google.com]
  • Conclusions: We present two siblings with a rare mutation, causing action myoclonus with renal failure, myoclonic epilepsy and severe ataxia. These cases also support the demyelinating polyneuropathy as a feature of this syndrome.[mdsabstracts.org]
  • In addition, our findings show that AMRF can present with either renal or neurological features.[ncbi.nlm.nih.gov]
Collapse
  • Renal biopsies showed collapsing glomerulopathy, a severe variant of focal glomerulosclerosis.[ncbi.nlm.nih.gov]
  • Histomorphology includes collapsing glomerulopathy and glomerulosclerosis. Manifestation is in young adults.[moldiag.com]
  • Title: American Journal of Human Genetics vol:82 issue:3 pages:673-684 Abstract: Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse[lirias.kuleuven.be]
Difficulty Climbing Stairs
  • The first complaint of patient 2 was difficulties climbing stairs at the age of 20. She then developed progressive gait ataxia and fatigue. At 25 years old, she had severe gait ataxia with frequent falls and marked action myoclonus.[mdsabstracts.org]
Aspiration
  • Prevention of secondary complications: Standard measures for prevention of aspiration pneumonia and sudden unexpected death in epilepsy should be followed.[ncbi.nlm.nih.gov]
  • 13, 17, 18 32 Adult respiratory distress syndrome Yes Diffuse generalized slowing and muscle artefact secondary to myoclonus MRI: mild generalized atrophy (cerebral, cerebellar, upper cervical) Normal (depression) P03 M Canadian 22 25 28 22 23 24 34 Aspiration[academic.oup.com]
Generalized Seizure
  • A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples.[ncbi.nlm.nih.gov]
  • Background: Action Myoclonus Renal Failure syndrome (AMRF) is characterized by neurological symptoms such as progressive action myoclonus epilepsy, dysarthria, ataxia, and generalized seizures.[mdsabstracts.org]
  • Onset occurs during childhood, with continuous focal jerking and intractable homolateral motor or generalized seizures. Progressive hemiparesis, hemianopia, and eventually, cognitive deterioration follow.[clinicalgate.com]
  • Severe progressive action myoclonus, dysarthria, ataxia, infrequent generalized seizures and renal failure ensued between 19 and 23 years of age. Intelligence remained normal in all four patients ( Andermann et al ., 1986 ).[academic.oup.com]
Fine Tremor
  • Neurological features Bilateral fine tremor of fingers and hands was the first neurological symptom with age of onset from 17 to 26 years (mean 19.8 years; median 19 years).[academic.oup.com]

Workup

  • […] activator protein PTG and interaction with laforin.[ 21 ] Because of clinically atypical features, some patients with mild Lafora disease could escape a correct diagnosis because adult patients with mild PME traditionally have not undergone diagnostic workup[thieme-connect.com]
Multifocal Spikes
  • Renal transplant (age in years) Deceased EEG Neuroimaging Mental status Tremor Myoclonus Seizures Proteinuria Renal failure Age (years) Cause Autopsy P01 F American 22 23 None 22 30 31 Living (35) None None Normal bg with diffuse intermittent theta; multifocal[academic.oup.com]
Spike-and-Slow-Waves
  • At times, single spike and slow wave discharges were recorded corresponding to the myoclonic jerks.[academic.oup.com]
White Matter Lesions
  • matter lesion Slight cognitive impairment ID Gender Ethnicity Age at onset of symptoms (years) Renal transplant (age in years) Deceased EEG Neuroimaging Mental status Tremor Myoclonus Seizures Proteinuria Renal failure Age (years) Cause Autopsy P01 F[academic.oup.com]

Treatment

  • Response to treatment is variable and may worsen over time, necessitating rehabilitative management. Renal insufficiency requires dialysis but response to treatment is poor, and renal transplantation is often necessary.[ncbi.nlm.nih.gov]
  • 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]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • 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]
  • She died five years later due to complications associated with the renal graft and its treatment. The first complaint of patient 2 was difficulties climbing stairs at the age of 20. She then developed progressive gait ataxia and fatigue.[mdsabstracts.org]

Prognosis

  • Zandbergen EGJ, Koelman JHTM, deHaan RJ et al (2006) SSEPs and prognosis in postanoxic coma.[doi.org]
  • Each chapter considers topics in a consistent fashion, dealing with the phenomenon of epilepsy in each etiology, including its epidemiology, clinical features and prognosis, and any specific aspects of treatment.[shorvon.eu]
  • The prognosis of a PME depends on the specific disease. Lafora disease, the neuronal ceroid lipofuscinoses, and the neuronopathic form of Gaucher disease have an invariably fatal course.[thieme-connect.com]
  • Opsoclonus-myoclonus syndrome: a new era of improved prognosis? Pediatr Neurol. 2017;72:65-9. Jankovic, J. Therapeutic developments for tics and myoclonus. Mov Disord. 2015;30(11):8. Jankovic J, Shannon KM. Movement disorders.[bcm.edu]
  • […] aggravating low protein levels Neurological side effects Thought to be a consequence of build of of some toxins Symptoms often alleviated by dialysis Symptoms include: Restless leg syndrome Peripheral neuropathy Sleep disorders Cognitive impairment Prognosis[almostadoctor.co.uk]

Etiology

  • Renal ultrasound demonstrated small kidneys; the etiology of renal failure was not established and renal biopsy not performed. He was treated with dialysis. Figure.[neurology.org]
  • Metabolic etiologies : mitochondrial disorders (MERRF), neuronal ceroid lipofuscinosis, sialidosis.[epilepsydiagnosis.org]
  • The book opens with a draft etiological classification that goes some way to filling the nosological void. The book is divided into three etiological categories: idiopathic, symptomatic, and provoked epilepsies.[shorvon.eu]
  • Pathological studies reveal inflammation with perivascular infiltrates and microglia nodules. 71 A viral etiology was originally hypothesized.[clinicalgate.com]
  • PAIN Pain is extremely common in end-stage renal disease and can result from renal and nonrenal etiologies.[aafp.org]

Epidemiology

  • Relevant External Links for SCARB2 Genetic Association Database (GAD) SCARB2 Human Genome Epidemiology (HuGE) Navigator SCARB2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SCARB2 No data available for Genatlas for SCARB2 Gene Isolation[genecards.org]
  • Each chapter considers topics in a consistent fashion, dealing with the phenomenon of epilepsy in each etiology, including its epidemiology, clinical features and prognosis, and any specific aspects of treatment.[shorvon.eu]
  • Those with an eGFR Epidemiology Strongly correlated with other chronic diseases – such as diabetes and cardiovascular disease Stage 3 to 5 CKD has a prevalence of about 8% 10% in women 6% in men Chronic kidney disease is of particular importance in terms[almostadoctor.co.uk]
Sex distribution
Age distribution

Pathophysiology

  • Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 2014; 12 (Suppl. 01) 72-81 37 Park JK, Orvisky E, Tayebi N, et al.[thieme-connect.com]

Prevention

  • Prevention of secondary complications: Standard measures for prevention of aspiration pneumonia and sudden unexpected death in epilepsy should be followed.[ncbi.nlm.nih.gov]
  • More regularly in more severe or rapidly advancing disease The three mainstays of preventative health are discussed in further detail below and include: Management of blood pressure Prevention of cardiovascular disease Lifestyle factors Consider giving[almostadoctor.co.uk]
  • This involuntary movement disorder prevented the patient from walking alone and she was confined to a wheelchair. The patient had been unconscious for three days postictally.[baillement.com]
  • This medication is directly injected into the muscles causing the involuntary jerks at relatively low doses, allowing for relaxation of the muscles, thus preventing the spasms.[bcm.edu]
  • Preventing their formation in Lafora disease mice completely prevents the disease, including both neurodegeneration and the progressive myoclonus epilepsy.[ 17 ] Traditional exclusion criteria for Lafora disease included an age at onset before 6 or after[thieme-connect.com]

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