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Juvenile Primary Lateral Sclerosis

JPLS


Presentation

  • Results: All affected individuals presented in the second year of life with progressive upper motor neuron dysfunction, affecting both bulbar and extremity muscles.[neurology.org]
  • 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]
  • Individual disorders are analyzed by age of onset, with attention given to disorders present in utero, in the newborn, in the infant, and the adolescent, making this a practical and comprehensive guide for any healthcare professional.[books.google.de]
  • Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign.[en.wikipedia.org]
Epilepsy
  • Seite 349 - RM (1993): Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.[books.google.de]
Asymptomatic
  • The parents of an affected individual are obligate heterozygotes and are therefore asymptomatic carriers. Genetic counseling should be provided to affected families.[orpha.net]
  • Heterozygotes (carriers) are asymptomatic. Sibs of a proband At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.[cmm.ucsd.edu]
Virilization
  • Alzheimer disease Familial isolated dilated cardiomyopathy Familial renal cell carcinoma Hereditary chronic pancreatitis Idiopathic bronchiectasis Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Male infertility with normal virilization[csbg.cnb.csic.es]
Hyperreflexia
  • Affiliated tissues include brain , spinal cord and tongue , and related phenotypes are muscle weakness and hyperreflexia Genetics Home Reference : 25 Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness[malacards.org]
  • It is inherited in an autosomal recessive pattern. 0002141 Hyperreflexia Increased reflexes 0001347 Muscle weakness Muscular weakness 0001324 Pseudobulbar behavioral symptoms 0002193 Spastic gait Spastic walk 0002064 Spastic tetraparesis 0001285 30%-79%[rarediseases.info.nih.gov]
  • Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign.[en.wikipedia.org]
  • Symptoms muscle weakness (leg, arms and tongue) spasticity ( hypertonia ) balance problems slow movements depression slurred speech stiffness hyperreflexia ( Babinski s sign present) Diagnosis There is no specific test for primary lateral sclerosis.[wikilectures.eu]
  • Clinical manifestations include progressive weakness, atrophy, fasciculation, hyperreflexia, dysarthria, dysphagia, and eventual paralysis of respiratory function.[icd10data.com]
Babinski Sign
  • Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign.[en.wikipedia.org]
  • Lower motor neuron loss causes initially increased electrical excitability leading to fasciculations, and later muscle weakness and atrophy; upper motor neuron involvement causes spasticity, clonus, hyperactive tendon reflexes, and Babinski signs.[neuropathology-web.org]
  • All deep tendon reflexes were exaggerated with bilateral ankle clonus and Babinski sign. There was no sensory or cerebellar dysfunction. Routine hematological and biochemical investigations including chest X-ray were normal.[neurologyindia.com]
Spastic Gait
  • It is inherited in an autosomal recessive pattern. 0002141 Hyperreflexia Increased reflexes 0001347 Muscle weakness Muscular weakness 0001324 Pseudobulbar behavioral symptoms 0002193 Spastic gait Spastic walk 0002064 Spastic tetraparesis 0001285 30%-79%[rarediseases.info.nih.gov]
  • ., 2005 Abbreviations SPG Spastic Gait gene locus; AD Autosomal dominant; AR Autosomal recessive; HSP60 heat shock protein 60 (mitochondrial Chaperonin); KIF5A kinesin heavy chain; NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1; L1CAM L1 cell[wiki.iop.kcl.ac.uk]
  • JALS is characterized by onset during childhood (mean age of onset is 6.5 years), spasticity of facial muscles, uncontrolled laughter, spastic dysarthria, spastic gait, inconstant moderate muscle atrophy, bladder dysfunction, and sensory disturbances;[cmm.ucsd.edu]
Gait Ataxia
  • - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Muscle weakness [csbg.cnb.csic.es]
Dysphasia
  • […] flaccidity - Pseudobulbar signs / spasmodic laugh and cry - Pyramidal syndrome Frequent - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Speech troubles / aphasia / dysphasia[csbg.cnb.csic.es]

Treatment

  • 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]
  • Treatment of ALS2-related disorders includes physical therapy and occupational therapy to promote mobility and independence and use of computer technologies and devices to facilitate writing and voice communication.[en.wikipedia.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment - Juvenile primary lateral sclerosis Not supplied. Resources - Juvenile primary lateral sclerosis Not supplied.[checkorphan.org]

Prognosis

  • Prognosis The prognosis is guarded, with the clinical signs having a major impact on quality of life. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis - Juvenile primary lateral sclerosis he \'prognosis\' of Juvenile primary lateral sclerosis usually refers to the likely outcome of Juvenile primary lateral sclerosis.[checkorphan.org]
  • Prognosis A distinctive clinical feature of PLS is that it has a very slow progression, leading it to be considered to have a more benign prognosis in comparison to ALS [3] .[physio-pedia.com]
  • […] hyperintensity in the corticospinal tracts (specificity 6 GRE/SWI: hypointensity in the precentral gyrus bilaterally, known as the " motor band sign " 8,9 MR spectroscopy 2 decreased NAA decreased glutamate increased choline increased myo-inositol Treatment and prognosis[radiopaedia.org]
  • (See Prognosis and Treatment.) The slow rate of progression of PLS provides most patients and families with time to adapt to the changes and identify resources for support.[emedicine.medscape.com]

Etiology

  • Etiology Mutations in the ALS2 gene (2q33-q35) encoding alsin, a protein that is abundant in motor neurons, and less commonly mutations in the ERLIN2 gene (8p11.2) have been reported.[orpha.net]
  • […] maintain a repository of clinically characterized patients with primary lateral sclerosis for future research protocols, to characterize the natural history of neurodegenerative disorders with corticospinal neuron degeneration, to investigate proposed etiologies[clinicaltrials.gov]
  • OBJECTIVE: To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia.[foundationdystoniaresearch.org]
  • Etiology and Patogenesis There is one special form of PLS, which occurs in childhood, called juvenile primary lateral sclerosis. Nowadays, we know that there is a gene transmited from parents to their children, called ALS2.[wikilectures.eu]
  • The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:11586298}.[genecards.org]

Epidemiology

  • Summary Epidemiology The prevalence and incidence of JPLS are not known. A very small number of cases have been reported to date with this condition. The disorder has been described in various ethnic groups.[orpha.net]
  • […] immunodeficiency due to CD3delta / CD3epsilon / CD3zeta Spinocerebellar ataxia type 26 Synonym(s): - JPLS - Juvenile PLS Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for ALS2 Genetic Association Database (GAD) ALS2 Human Genome Epidemiology (HuGE) Navigator ALS2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ALS2 No data available for Genatlas for ALS2 Gene Infantile-onset[genecards.org]
  • Epidemiology Found in 1–3% of patients with motor neuron disorder Onset is usually after age 40 years, although a juvenile form has been described. Mean age at symptom onset is 54 years. There is a slight male predominance, which is similar to ALS.[unboundmedicine.com]
  • Clinically Relevant Anatomy Epidemiology [3] Approximately 2-5% of adults in neuromuscular clinics are diagnosed with PLS. The age of onset is approximately 50 years and older, though a juvenile-onset form of PLS has been identified as well.[physio-pedia.com]
Sex distribution
Age distribution

Pathophysiology

  • Progress has been made in understanding the genetic defects and the pathophysiology of this crippling motor neuron disease (commonly called Lou Gehrig’s disease).[nejm.org]
  • Etiology and Pathophysiology PLS is usually sporadic with no known cause; potential role of TAR DNA–binding protein 43 (TDP-43) ( 1 ) Genetics Juvenile PLS and juvenile ALS has been correlated with a mutation in the ALS2 gene on chromosome 2.[unboundmedicine.com]

Prevention

  • Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice.[books.google.de]
  • Causes - Juvenile primary lateral sclerosis Other Possible Causes of these Symptoms * Balance problems * Clumsiness * Difficulty swallowing * Drooling * Inability to walk * Muscle spasms * Progressive leg weakness * Slurred speech Prevention - Juvenile[checkorphan.org]
  • Information sheet for ALS1 & ALS2 Course Objectives and Outcomes Advanced Life Support 1 Recognition, assessment and management of the critically ill patient using a structured ABCDE approach (aiming to prevent cardiac arrest) Airway management skills[gptt.com.au]
  • […] immobility. speech therapy – to help you with your facial muscle problems and speech. assistive devices – an occupational or physical therapist will check if you need assistive devices such as cane. 6 Prevention There are no preventions that might stop[findatopdoc.com]
  • For long term storage store at -20 deg C in small aliquots to prevent freeze-thaw cycles. Concentration: Approximately 0.5mg/ml. Actual concentration varies with each lot. Datasheets/Manuals: Printable datasheet for anti-ALS2 antibody - OAAB03484[avivasysbio.com]

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