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Lower Motor Neuron Syndrome with Late-Adult Onset

Spinal Muscular Atrophy Type Jokela


Presentation

  • Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs.[cmtausa.org]
  • Respiratory onset can present with: Dyspnoea and orthopnoea.[patient.info]
  • Adrenal insufficiency may be present and may predate onset of neurological symptoms by several years. Adult female carriers may present with slowly progressive spastic paraparesis.[clinicalgate.com]
  • In family A the pathological findings and the clinical presentation with symmetrical proximal limb weakness show similarities with autosomal dominant SMA.[link.springer.com]
  • Fasciculations and cramps are present. Bulbar involvement is often mild and occurs late in the disease.[neuroweb.us]
Pain
  • ., University of Iowa - Peripheral and Autonomic Nervous System Disorders and Pain-Nicholas Maragakis, Johns Hopkins University - Neoplastic and Paraneoplastic Diseases-Lisa DeAngelis, Memorial Sloan-Kettering Cancer Center - Infectious Diseases of the[books.google.com]
  • ., University of Iowa · Peripheral and Autonomic Nervous System Disorders and Pain-Nicholas Maragakis, Johns Hopkins University · Neoplastic and Paraneoplastic Diseases-Lisa DeAngelis, Memorial Sloan-Kettering Cancer Center · Infectious Diseases of the[books.google.com]
  • Also pain due to nerve affection may occur in some patients with ALS. 4, 5, 6, 7 Fasciculations are a common symptom of ALS. These persistent muscle twitches are generally not painful but can interfere with sleep.[mda.org]
  • The pain may be radicular in nature and frequently has a pattern suggestive of neurogenic claudication, in which pain occurs with ambulation and is relieved by rest.[clinicaladvisor.com]
  • -Pain (hallmark): sharp, stabbing, hot; electric, radiating, aggravated by maneuvers that stretch the root (cervical: neck extension, neck rotation, Spurling's maneuver) -lower extremity (SLR used with L5 or S1 nerve root involvement is suspected and[brainscape.com]
Fatigue
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.com]
  • However unlike muscle cramps, fatigue is not a prominent early symptom.[5].[explainmedicine.com]
  • Other signs and symptoms frequently associated with ALS are cachexia, fatigue, and musculoskeletal complaints.[clinicalgate.com]
  • Excessive fatigue when walking. Bulbar onset: The first sign is usually slurring of the speech (impaired tongue movement). Wasting and fasciculation of the tongue. Dysphagia (usually a late feature with significant speech difficulties).[patient.info]
  • Initial features are either those of dysfunction of the lower motor neuron (fatigue, weakness of distal limb muscles e.g. drop foot, muscle atrophy e.g. wasted small hand muscles (difficulty with buttons and key manipulation), fasciculations, stiffness[neuroweb.us]
Movement Disorder
  • To further enhance the scope and quality of this new edition, the following Section Editors provided oversight of their respective sections: - Movement Disorders-Joel Perlmutter, Washington University - Dementias-David Knopman, Mayo Clinic - Motorneuron[books.google.com]
  • To further enhance the scope and quality of this new edition, the following Section Editors provided oversight of their respective sections: · Movement Disorders-Joel Perlmutter, Washington University · Dementias-David Knopman, Mayo Clinic · Motorneuron[books.google.com]
  • Assessment is needed of the affected individual's goals, their function, and any symptoms that may be related to the movement disorder, such as pain.[en.wikipedia.org]
  • disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic[se-atlas.de]
Chronic Fatigue Syndrome
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.com]
Myopathy
  • Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes[books.google.com]
  • Myoadenylate deaminase deficiency Phosphorylase deficiency Phosphofructokinase deficiency Phosphoglycerate kinase deficiency Less common myopathies: Central core disease Hyperthyroid myopathy Myotonia congenita Myotubular myopathy Nemaline myopathy Paramyotonia[hopkinsmedicine.org]
  • Distal myopathy with anterior tibial onset Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior hand involvement Distal myopathy, Welander type Distal myotilinopathy Distal nebulin myopathy Distal[se-atlas.de]
  • Saunders, Philadelphia Google Scholar Wallgren-Petterson C (1998) Genetics of the Nemaline myopathies and the myotubular myopathies.[link.springer.com]
  • Nevertheless, several neurogenic entities may clinically simulate myopathies, and some myopathies such as LMNA- mutated muscular dystrophies and inclusion body myositis may also show neurogenic features.[journals.plos.org]
Painful Muscle Cramps
  • Some with ALS experience painful muscle cramps, which can sometimes be alleviated with medication.[mda.org]
Peripheral Neuropathy
  • Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes[books.google.com]
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]
  • YOU MIGHT ALSO LIKE... 102 terms Neuro 92 terms Peripheral Neuropathies 51 terms POM, neuro- TN/bells, GBS, MG OTHER SETS BY THIS CREATOR 105 terms Gen Med: Infectious Disease 64 terms Gen Med: Pulmonology (Lung CA, Sleep DO) 49 terms Gen Med: Cardiology[quizlet.com]
  • Less frequently, seizures, sensorimotor demyelinating peripheral neuropathy and premature cardiovascular disease may occur. Serum cholesterol levels are reduced and cholestanol levels are increased (normal 0.2 0.2 mg/dl).[neuroweb.us]
Hyporeflexia
  • Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary.[em-consulte.com]
  • What is affected in Motor Neuron Diseases -motor neurons, their motor axons, and secondarily the muscle fibers they innervated (the motor unit) Infantile Spinal Muscular Atrophy -autosomal recessive -hypotonicity, hyporeflexia, fatal -tongue fasciculations[brainscape.com]
  • The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will cause UMN symptoms and signs such as spasticity, weakness and hyperreflexia where[explainmedicine.com]
  • Signs LMD dysfunction in the limbs manifests as weakness, atrophy, fasciculations and hyporeflexia. The thighs are often a site of marked fasciculation.[patient.info]
  • Recently, it has been suggested that the corneomandibular reflex might be a more sensitive and specific indicator than the jaw jerk of UMN pathology in the bulbar region. 10 LMN findings on examination include weakness, atrophy, hypotonia, hyporeflexia[clinicalgate.com]
Areflexia
  • Sclerosis -sporadic, involves only upper motor neurons, spasticity -hyperreflexia, more benign course -little atrophy or signs of denervation Progressive Spinal Muscular Atrophy -mostly sporadic, progressive weakness, muscle atrophy, fasciculations, areflexia[brainscape.com]
  • The paralysis is usually asymmetrical, predominantly involving the proximal muscles (lower limbs) with pain and tenderness with typical weakness, flaccidity and areflexia. The extent is variable from one muscle group to complete tetraparesis.[neuroweb.us]
  • Joint contractures, severe progressive scoliosis, and restrictive lung disease were present in most of the SMA II individuals, but these complications were less frequently identified in SMA III. 32 Hand tremor, tongue fasciculations, and areflexia are[clinicalgate.com]
  • […] syndrome Caudal appendage-deafness syndrome Caudal regression sequence Central bilateral macrogyria Central nervous system calcification-deafness-tubular acidosis-anemia syndrome Centronuclear myopathy Cerebellar ataxia, Cayman type Cerebellar ataxia-areflexia-pes[se-atlas.de]
Neurologic Manifestation
  • Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University[books.google.com]
  • Kosofsky, Weill-Cornell University Medical Center · Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University[books.google.com]
  • It has been suggested that such co-infection, rather than infection with HTLV-2 alone, increases the likelihood of neurological manifestations ( Araujo and Hall, 2004 ; Posada-Vergara et al., 2006 ).[clinicalgate.com]
  • The disease develops usually in the 2 nd or 3 rd decades of life and is characterized by progressive premature atherosclerosis and recurrent thromboembolic complications with a variety of neurological manifestations (cerebellar ataxia, spastic paraplegia[neuroweb.us]
Cerebellar Disease
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]

Workup

  • IMAGING WORKUP MRI of the spine showed a normal cervical cord, a dilated thoracic cord with increased signal intensity on the T2-weighted images beginning at T5 and going through the conus, and dilated vascular structures along the dorsal and ventral[clinicaladvisor.com]

Treatment

  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.com]
  • The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments from the perspective of cutting edge clinical and[books.google.com]
  • Fatemi Oxford University Press, ١٨‏/٠٨‏/٢٠١٦ - 1488 من الصفحات The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments[books.google.com]
  • […] and support There is no cure for motor neurone disease, but treatment can help reduce the impact the symptoms have on your life.[nhs.uk]
  • Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available.[em-consulte.com]

Prognosis

  • Of all forms of MND, the latter two carry the best prognosis. Progressive bulbar palsy affects the neck and facial muscles much earlier. It is most common in elderly women, and has a worse prognosis.[abc.net.au]
  • Retrospectively, the prognosis of sporadic adult-onset LMND appears to be favourable, because clinical abnormalities were still confined to one limb in most patients after a median disease duration of 12 years.[ncbi.nlm.nih.gov]
  • Since these two diseases have different etiologies and prognosis, it reminds us the necessity to rule out KD in face with a suspected male case of ALS.[kennedysdisease.blogspot.com]
  • This cautious approach is understandable, given the prognosis of the illness and the devastation that being given the diagnosis may cause to a person's life.[patient.info]
  • Very rarely can affect woman, who have much milder symptoms and a better prognosis. Distal 40 to 60 years Symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progression is slow; rarely leads to total incapacity.[hopkinsmedicine.org]

Etiology

  • Since these two diseases have different etiologies and prognosis, it reminds us the necessity to rule out KD in face with a suspected male case of ALS.[kennedysdisease.blogspot.com]
  • […] neuropathy) -serum CPK elevated -DNA testing diagnostic -degeneration of the corticospinal tracts (lack of myelin) -Bunina body: dense granules inclusion in cell body cytoplasm (ubiquitin accumulations) -unknown, some familial cases (genetic) Possible etiologies[brainscape.com]
  • Introduction to the disease Motor neuron disease (MND) or amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of unknown etiology.[explainmedicine.com]
  • The etiology of PPS is unknown.[clinicalgate.com]
  • As more is learned about the molecular etiology of HAM/TSP, future therapies will likely target the pathogenic effect of HTLV-1–reactive T cells.[clinicalgate.com]

Epidemiology

  • The ALS Association has a good PDF report on the Epidemiology of ALS here. To learn more about ALS, follow this link to the ALS Association. I also ran across an interesting 2008 report on how Kennedy’s Disease mimics ALS.[kennedysdisease.blogspot.com]
  • There may be several causes for such oxidative damage to motor neurons and the disease may just represent an end-stage phenotypic expression of these abnormalities. [ 4 ] Epidemiology MND is relatively uncommon with an annual incidence of about 2 cases[patient.info]
  • Epidemiological study of acute encephalitis in Tottori Prefecture, Japan. Eur J Neurol. 2008 Oct;15(10):1075-9. Epub 2008 Aug 20. PubMed PMID: 18717727. 鳥取県における急性脳炎の疫学。[pref.tottori.lg.jp]
  • This was probably due, in large part, to increased life span and better recognition of the diagnosis. 94, 95 More recent population studies from multiple European countries have all demonstrated stable incidence. 1, 5, 42, 55, 81 Many epidemiologic studies[clinicalgate.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]
  • Pathophysiology This is a degenerative condition that affects motor neurons, namely the anterior horn cells of the spinal cord and the motor cranial nuclei.[patient.info]

Prevention

  • […] royalties for patents on “Method for the diagnosis of familial amyotrophic lateral sclerosis” (US 5,843,641) and “Mice having a mutant SOD1 encoding transgene” (US 6,723,893), holding a patent for “Compounds and method for the diagnosis, treatment and prevention[nejm.org]
  • Intractable Urinary Incontinence with Idiopathic Normal-Pressure Hydrocephalus KATSUOKA HIROYUKI, HARADA TOSHIHIDE, MIMORI YASUYO, TOGO MASANORI, HORIE NOBUKO, SASAKI TOMOHIRO, YAMADA TOORU, MATSUMOTO MASAYASU 新薬と臨床 56(11) 1846-1851 Nov 2007 Mosapride Citrate Prevents[researchmap.jp]
  • These countries included Sudan, Benin, Ethiopia, Burkina Faso, and Nepal, illustrating the importance of continued widespread vaccination prevention programs. 50 Clinical Features In patients with overt manifestations of infection, symptoms consist of[clinicalgate.com]

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