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]

• 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]

• 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]

• 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]

• Mild Cognitive Impairment

  Harada T, Ishizaki F, Horie N, Katsuoka H, Nitta Y, Yamada T, Nitta K, Ito M Hiroshima journal of medical sciences 60 11-13 Mar 2011 [Refereed] An 81-year-old man diagnosed with alcohol-induced persistent mild cognitive impairment consulted our clinic [researchmap.jp]

  Reductions in the size of certain structures of the brain were found to be predictive for mild cognitive impairment and progression to dementia. [britannica.com]

• Sleep Attack

  attack by two ergot dopamine agonists. [researchmap.jp]

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]