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]

• 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]

  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]

  Wernicke-Korsakoff syndrome (common in alcoholics) results from a thiamine (vitamin B 1 ) deficiency and consists of eye movement disorders, cerebellar incoordination, memory loss, and peripheral neuropathy. [britannica.com]

• Gaucher Disease

  In the latter case, special attention was directed to the lysosomal B-glucosidase in relation to Gaucher disease and to sphin gomyelinase in relation to Niemann-Pick disease, and "two round" table discussions were devoted to the two respective items. [books.google.com]

  disease type 2 Gaucher disease type 3 Generalized bulbospinal muscular atrophy Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized isolated dystonia Genetic central nervous system and retinal [se-atlas.de]

  Examples of lysosomal disorders include Tay-Sachs disease, metachromatic leukodystrophy, Krabbe disease, Fabry disease, Gaucher disease, Farber disease, and Niemann-Pick disease. [britannica.com]

• Difficulty Walking

  walking Breathing and swallowing difficulties are very rare and the condition does not usually affect life expectancy Over time, muscles become weaker resulting in children potentially losing their ability to walk when older SMA type IV – adult onset [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]

• 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]

• Sputum

  KATSUOKA HIROYUKI, HIGAKI MASAHIRO, HARADA AKIRA, MIMORI YASUYO, NAKAMURA SHIGENOBU 広島県立病院医誌 32(1) 73-77 Dec 2000 A case of Guillain-Barre syndrome successfully treated with minitracheotomy for sputum retention. [researchmap.jp]

• Painful Muscle Cramps

  Some with ALS experience painful muscle cramps, which can sometimes be alleviated with medication. [mda.org]

• Anhedonia

  Clinical characteristics of anhedonia in Japanese patients with Parkinson's disease Harada T, Ishizaki F, Horie N, Katsuoka H, Nitta Y, Yamada T, Nitta K International Med J 18(3) 185-187 Sep 2011 [Refereed] Alcohol-induced persistent mild cognitive impairment [researchmap.jp]

• 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]

• 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]

  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]

  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]

• Sleep Disturbance

  Roos, Indiana University - Sleep Disturbances-Mark Dyken, University of Iowa - Substance Abuse and Toxicology Disorders-Barry E. Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C. [books.google.com]

  Sleep disturbances Depression, anxiety, immobility pain and sleep apnoea found to be contributory factors for sleep disturbances.[5]. Family history of MND Familial ALS inherited in autosomal dominant, autosomal recessive, or X-linked manner. [explainmedicine.com]

  Effects of systemic disease Endocrine diseases Disorders of the hypothalamus can result in autonomic dysfunction, sleep disturbance, and diabetes insipidus. Pituitary tumours may cause acromegaly, which may result in peripheral-nerve compression. [britannica.com]

• 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]

  The primary signs of cerebellar disease are nystagmus, ataxia, and scanning speech. ( See Unlocalized or multifocal disorders: Demyelinating diseases .) [britannica.com]

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]

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]

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]

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]

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]