But research on many other lipidoses was presented, as lectures or posters and avidly discussed. Other topics presented in special sessions were drug induced lipidoses and peroxisomal disorders. [books.google.com]

Respiratory onset can present with: Dyspnoea and orthopnoea. [patient.info]

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]

The disease is slowly progressive, with a male predilection, generally presenting before the fifth decade. [neupsykey.com]

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]

• Asymptomatic

  Fortunately, most infections with the West Nile virus are asymptomatic, with only one in 150 infections resulting in neurologic involvement. The elderly and the immunocompromised appear to be at highest risk. [neupsykey.com]

  Symptom onset varies, with about ¼ of people having symptoms before age 10 years, 41% between 10 and 30 years, 20% over 30 years, and 14% asymptomatic after 50 years of age. Less than 10% of people with CMT2K need a wheelchair full-time. [cmtausa.org]

  Asymptomatic forms have been described. NCVs may be slowed. MRI demonstrated abnormalities characteristic of leukodystrophy. The diagnosis is based on raised plasma total homocysteine (normal Post-irradiation lumbosacral radiculopathy MS [neuroweb.us]

  Asymptomatic patients are also present. [emedicine.medscape.com]

  […] disability-spasticity-ectrodactyly syndrome Intellectual disability-strabismus syndrome Intermediate DEND syndrome Intermediate nemaline myopathy Intermediate severe Salla disease Internal carotid agenesis Isolated Dandy-Walker malformation Isolated anencephaly/exencephaly Isolated asymptomatic [se-atlas.de]

• Difficulty Walking

  […] unaided, though many find it difficult to walk or get up from a sitting position Balance problems Difficulty walking Breathing and swallowing difficulties are very rare and the condition does not usually affect life expectancy Over time, muscles become [thehumanthebody.com]

  Such patients may have difficulty walking in the dark or on irregular surfaces because of proprioceptive problems with the feet. Polyneuropathy may also result in distal weakness and atrophy if there is actual loss of motor axons. [dartmouth.edu]

• Pathologist

  This may include physical therapists, physicians (including neurologists and psychiatrists ) and rehabilitation physicians, orthotists, occupational therapists, and speech-language pathologists. [en.wikipedia.org]

  […] in sarcoma (FUS), as well as their association with other ALS associated pro- teins, have now become hallmark pathological features of the disease. 1 Te neuronal distribution and prion-like propagation of phosphorylated ±DP-43 inclusions have enabled pathologists [redalyc.org]

• Pneumonia

  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]

  Death is usually caused by respiratory failure or pneumonia. Progression of MND is usually steady, though it's faster in some than in others. [abc.net.au]

  Pneumonia due to infection or aspiration. Urinary tract infections. Constipation. Spasticity and cramping of muscles. Depression Loss of speech as a means of communication. Immobility and attendant disability. [patient.info]

  They eventually become unable to eat or speak and are at increased risk for choking and aspiration pneumonia. c. [advancedpsy.com]

  Treatment is symptomatic and supportive, and life expectancy is normal, though a small percentage of patients (~ 10%) succumb to the disease in their 60’s or 70’s due to swallowing complications (aspiration pneumonia, asphyxiation) resulting from the [rarediseases.org]

• Hearing Impairment

  Springer, Berlin Heidelberg New York Tokio Google Scholar Deschauer M, Müller T, Wieser T, Schulte-Mattler W, Kornhuber M, Zierz S (2001) Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. [link.springer.com]

  No hearing impairment is seen. Spinal muscular atrophy The clinical picture of spinal muscular atrophy (SMA) is highly variable and represents a continuum. The age of onset ranges from before birth to adulthood. [emedicine.medscape.com]

  […] anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency [se-atlas.de]

• Myopathy

  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]

  […] in inflammatory myopathies). [dartmouth.edu]

  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]

• Painful Muscle Cramps

  They are the result of the ongoing disruption of signals from the nerves to the muscles that occurs in ALS. Some with ALS experience painful muscle cramps, which can sometimes be alleviated with medication. [mda.org]

• Foot Deformity

  The clinical features included distal weakness, muscle wasting and sensory loss, foot and hand deformities and loss of deep tendon reflexes. Deafness is always found in these patients and occurs by the third decade. [cmtausa.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]

  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]

  Peripheral nerve damage (peripheral neuropathy) Peripheral neuropathy generally appears in one of three patterns that can be distinguished clinically. [dartmouth.edu]

  These other manifestations may include ataxia, dementia, mental retardation, optic neuropathy, retinopathy, peripheral neuropathy, amyotrophy, extrapyramidal dysfunction, deafness, or ichthyosis. [neupsykey.com]

• 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]

  Lower motor neuron findings include atrophy, hypotonia, cramps, fasciculations, hyporeflexia, weakness, and bulbar dysarthria. [consultant360.com]

• Guillain-Barré Syndrome

  Guanidinoacetate methyltransferase deficiency Guillain-Barré syndrome Gómez-López-Hernández syndrome HANAC syndrome HERNS syndrome HSD10 disease HSD10 disease, atypical type HSD10 disease, infantile type HSD10 disease, neonatal type Haddad syndrome Hair [se-atlas.de]

  Part I discusses cervical spondylotic radiculomyelopathy, lumbar spondylosis, amyotrophic lateral sclerosis (ALS), Guillain-Barré syndrome (GBS), and acquired demyelinating polyneuropathies. [consultant360.com]

  Such cases initially were attributed to Guillain–Barré syndrome, although it now is clear that the weakness more likely was due to anterior horn cell disease. [neupsykey.com]

  Guillain-Barré syndrome. Post-polio syndrome. Myasthenia gravis or Lambert-Eaton myasthenic syndrome. Peripheral nerve lesions, particularly due to diabetic neuropathy. Thyrotoxicosis with associated myopathy. Spinal cord tumours. [patient.info]

  Acute Motor-dominant Polyneuropathy as Guillain-Barré Syndrome and Multiple Mononeuropathies in a Patient with Sjögren's Syndrome. Intern Med. 2016;55(18):2717-22. doi: 10.2169/internalmedicine.55.6881. Epub 2016 Sep 15. PubMed PMID: 27629974. [pref.tottori.lg.jp]

• 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]

  39,40 Although equally effective, 41 there is no additive affect. 41 In the anti-GM1 seropositive subgroup, immunoglobulin may be more effective. 42 Treatment with IvIG or plasmapheresis does not influence the outcome on Miller Fisher syndrome (ataxia, areflexia [consultant360.com]

  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]

  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]

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]

MND and as such deliver biomarkers relevant to diagnosis. 63 Nevertheless, a correlation between imaging parameters and clinical metrics has thus far been incon- sistent across studies. 80,81 We argue that T1 MTC should be routinely included in the workup [redalyc.org]

Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. [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]

The other thrust of treatment is aimed at symptomatic management, preferably by a multidisciplinary team. [consultant360.com]

Treatment for ALS Currently, ALS does not have a cure, but treatments exist to relieve symptoms and improve patients' quality of life. The first drug for treating the disease, Riluzole, was approved by the Food and Drug Administration (FDA) in 1995. [livescience.com]

[…] of Diabetic Polyneuropathy -good control of diabetes -nerve growth factor -sorbitol antagonist -myoinositol & vitamin supplementation -be aware of other conditions (CIDP) Treatment of Mononeuropathy, mononeuropathy multiplex -treatment is conservative [brainscape.com]

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]

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]

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]

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]

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]

Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS. [emedicine.medscape.com]

Usually, etiology is unknown. Nomenclature and symptoms vary according to the part of the motor system most affected. Myopathies have similar features but are disorders of the muscle membrane, contractile apparatus, or organelles. [msdmanuals.com]

Participants came from Europe, USA, Israel and Japan, and presented data on research in molecular biology and genetics, enzymology, cell biology as well as medical and epidemiological aspects of normal and pathological lipid metabolism. [books.google.com]

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]

Epidemiology, Diagnosis, Management and Outcomes. Drugs & Aging, 1999; 15: 81-89. [ Links ] 36. Seo SW, Thibodeau M-P, Perry DC, Hua A, Sidhu M, Sible I, et al. [scielo.org.pe]

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]

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]

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]

Positive serology for Campylobacter jejuni, cytomegalovirus (CMV), Epstein-Barr virus (EBV), or Mycoplasma pneumoniae is more frequently associated with the severe form of the disease (unable to walk at the nadir). 30 While the sequence of pathophysiologic [consultant360.com]

[…] 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]

In the United States, as many as 20,000 to 30,000 people have the disease, and about 5,000 people are diagnosed with it each year, according to the Centers for Disease Control and Prevention (CDC). ALS commonly strikes people 40 to 60 years old. [livescience.com]

Swallowing therapy may also be used in patients experiencing symptoms of dysphagia to prevent the progression towards feeding-tube placement [3]. [physio-pedia.com]

Your physiotherapist may suggest you try a standing frame which encourages equal weight bearing through both legs and can help prevent and reduce contractures. [smasupportuk.org.uk]

treatment of concurrent infections, and monitoring for arrhythmias help prevent much of the morbidity associated with GBS. [consultant360.com]