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

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]

Clinical presentation ALS may present initially with signs of only upper or lower motor neuron involvement. [emedicine.medscape.com]

We suggest that the ALS2 gene should be screened for mutations in patients who present with a similar phenotype. Read more: http://www.neurology.org/content/82/12/1065.long [foundationdystoniaresearch.org]

• Malnutrition

  For trouble swallowing you can elect to have a feeding tube placed, which basically takes malnutrition and dehydration off the table. But mostly it's about the biology of the disease. [scientificamerican.com]

• Pneumonia

  […] islet autotransplantation Acute pancreatitis: Acute peritonitis Macroamylasemia Macrolipasemia Malabsorption syndromes/processes Perforated viscus Chronic pancreatitis: Ampullary carcinoma Cholangitis Cholecystitis Chronic gastritis Community-acquired pneumonia [centogene.com]

  Tremor of the hands Muscle cramps when performing physical activities Muscle twitches and weakness of limb muscles As the condition progresses: Weakness of the face and tongue muscles which may cause difficulties when swallowing and speaking Recurring pneumonia [thehumanthebody.com]

  […] or acute presentation About 3% of MND patients develop diaphragm weakness as the initial problem, and unfortunately the prognosis is then typically poor. 56 Acute admission of advanced cases of undiagnosed MND in respiratory failure with superimposed pneumonia [pn.bmj.com]

• Respiratory Insufficiency

  Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease or Charcot disease, is the most common form of motor neuron disease 1,4 resulting in progressive weakness and eventual death due to respiratory insufficiency. [radiopaedia.org]

• 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]

• Myelopathy

  Radiation-induced myelopathy Type 1 Excludes myelopathy NOS ( G95.9 ) paralysis G12.20 ICD-10-CM Diagnosis Code G12.20 Motor neuron disease, unspecified 2016 2017 2018 2019 Billable/Specific Code meaning progressive muscular atrophy G12.21 Duchenne-Aran [icd10data.com]

  Type 1 (HTLV-1 myelopathy). [neurologyindia.com]

  Metabolic myelopathies Vitamin B 12 and copper 48 deficiencies are well-recognised causes of slowly progressive myelopathy, but typically have associated sensory impairment. [pn.bmj.com]

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]

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]

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

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

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 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 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]

[…] 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]

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]

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 [ ✎ 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]

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]

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]

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]

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]

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]

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]

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]

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]

[…] 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]

General Prevention There is no known means of prevention. -- To view the remaining sections of this topic, please sign in or purchase a subscription -- Citation Stephens, Mark B., et al., editors. [unboundmedicine.com]