Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign. [en.wikipedia.org]

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]

Mimics can be grouped into those presenting with LMN- or UMN-only signs and those with mixed signs. LMN presentations represent the greatest diagnostic challenge. [pn.bmj.com]

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]

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]

• 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]

  Symptoms [ ✎ edit | edit source ] muscle weakness (leg, arms and tongue) spasticity ( hypertonia ) balance problems slow movements depression slurred speech stiffness hyperreflexia ( Babinski´s sign present) Diagnosis [ ✎ edit | edit source ] There is [wikilectures.eu]

  Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign. [en.wikipedia.org]

  80%-99% of people have these symptoms Abnormal pyramidal sign 0007256 Abnormal upper motor neuron morphology Abnormal shape of upper motor neuron 0002127 Gait imbalance Abnormality of balance Abnormality of equilibrium Imbalanced walk [ more ] 0002141 Hyperreflexia [rarediseases.info.nih.gov]

  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]

  sign 0003487 Cerebral cortical atrophy Decrease in size of the outer layer of the brain due to loss of brain cells 0002120 Childhood onset Symptoms begin in childhood 0011463 Difficulty in tongue movements 0000183 Juvenile onset Signs and symptoms begin [rarediseases.info.nih.gov]

  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

  [ more ] 0002141 Hyperreflexia Increased reflexes 0001347 Muscle weakness Muscular weakness 0001324 Pseudobulbar behavioral symptoms 0002193 Spastic gait Spastic walk 0002064 Spastic tetraparesis 0001285 30%-79% of people have these symptoms Dysphagia [rarediseases.info.nih.gov]

  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 adhesion molecule; PLP= proteolipid [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]

• Spastic Quadriplegia

  During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron disorders including pseudobulbar palsy and spastic quadriplegia. [orpha.net]

  Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs. [thieme-connect.com]

  Examination reveals upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal, or sensory signs. [cmm.ucsd.edu]

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 for individuals with PLS is symptomatic. Baclofen and tizanidine may reduce spasticity. Quinine or phenytoin may decrease cramps. [en.wikipedia.org]

The painful and debilitating symptoms of primary lateral sclerosis can be relieved through: Physical Therapy Chiropractic Care Acupuncture Treatment At Spine and Sports Medicine, effective treatment of primary lateral sclerosis can be achieved through [spineandsports.com]

They are working towards finding new treatments. [medicalnewstoday.com]

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 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]

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]

Etiology and Patogenesis [ ✎ edit | edit source ] 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]

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]

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]

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]

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]

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]