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]

• Weakness

  […] when moving, breathing, eating and swallowing Difficulties in raising the head in an upward position, or in sitting without support Muscles are thin and weak, limbs appearing limp and floppy Breathing problems caused by weakness in the baby’s chest Some [thehumanthebody.com]

  […] due to weakness of ventilatory muscles.[5]. [explainmedicine.com]

  […] and tongue; and weak palatal movement. [msdmanuals.com]

  However, lack of upper-extremity weakness and/or atrophy, absence of bulbar symptoms, presence of sensory deficits, and, most importantly, the fluctuating nature of the weakness were not consistent with ALS. [clinicaladvisor.com]

  Facioscapulohumeral childhood to early adults Symptoms include facial muscle weakness and weakness with some wasting of shoulders and upper arms; progression is slow with periods of rapid deterioration; life span may be many decades after onset. [hopkinsmedicine.org]

• 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]

  Pain and fatigue management Individuals with SMA Type 4 sometimes report experiencing pain and fatigue. This can happen because you can overuse some muscles in order to try and compensate for the weaker muscles. [smasupportuk.org.uk]

  For example, walking, swimming and stationary biking can strengthen muscles not affected by the disease, leading to improved heart health and less fatigue and depression. [livescience.com]

  However unlike muscle cramps, fatigue is not a prominent early symptom.[5]. [explainmedicine.com]

  Patients develop pain, fatigue, and weakness, often most prominent in the muscle groups previously affected by the poliomyelitis. [neupsykey.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]

• Difficulty Climbing Stairs

  Patients can be identified initially because of frequent falling and difficulty climbing stairs. [clinicalgate.com]

• Cough

  Characteristics of spinal muscular atrophy 0-6 months (infant-onset) Highest motor milestone achieved UNABLE TO SIT (“nonsitters”) Type I (also known as Werdnig-Hoffmann disease) Characteristics Poor head control Weak cough Weak cry Progressive weakness [togetherinsma.com]

  It is usually caused by infection, most commonly viral, producing a syndrome of frequent, dry cough, serous or mucoid nasal discharge and pain on manual compression of the laynx, pharynx and trachea. [medical-dictionary.thefreedictionary.com]

   No impairment of vision or double visionNo impairment of vision or double vision  No retention or incontinence of urine or fecesNo retention or incontinence of urine or feces no chronic cough,or haemoptysisno chronic cough,or haemoptysis P.M.HP.M.H [slideshare.net]

  Symptoms usually appear when an infant is 7 to 18 months old and are less severe than type I, but are more noticeable Infants are usually able to sit unattended, but cannot stand or walk without assistance Weak respiratory muscles, which can inhibit coughing [thehumanthebody.com]

  Sometimes (in about 20 percent of all cases) the problem presents first in the muscles controlling speech, producing alterations in the vocal quality, or swallowing, which may lead to coughing and choking. [mda.org]

• Dysphagia

  For 4/12 with dysphagia and nasallimb. For 4/12 with dysphagia and nasal regurgitation. Withregurgitation. [slideshare.net]

  The common symptoms of PLS include leg weakness, spasticity, spastic bulbar weakness, dysarthria, dysphagia, urinary urgency, and incontinence. [physio-pedia.com]

  Patients usually present with facial weakness, dysphagia, and dysarthria. [msdmanuals.com]

  Dysphagia A manifestation of bulbar palsy mainly affecting the lower cranial nerve nuclei.[2]. LMN dysfunction causes a weakened tongue.It interferes with the formation of a bolus or a gutter for liquids. [explainmedicine.com]

  Symptoms include weakness of the facial and tongue muscles, hand tremor, muscle cramps, dysphagia, dysarthria and gynecomastia. Weakness usually begins in the pelvis before spreading to the legs. [advancedpsy.com]

• Nausea

  Migraine headaches are extremely painful recurring headaches that are sometimes accompanied by nausea and vomiting; most migraine sufferers have a family history of the disorder. [britannica.com]

• Vomiting

  Migraine headaches are extremely painful recurring headaches that are sometimes accompanied by nausea and vomiting; most migraine sufferers have a family history of the disorder. [britannica.com]

• Muscle Weakness

  […] due to weakness of ventilatory muscles.[5]. [explainmedicine.com]

  […] muscular atrophy Initial symptoms may include: 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 [thehumanthebody.com]

  Congenital birth Symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span. [hopkinsmedicine.org]

  Symptoms vary in severity and may include muscle weakness and atrophy, fasciculations, emotional lability, and respiratory muscle weakness. [msdmanuals.com]

  Affected individuals will show signs of twitching, often in the tongue and/or hand, followed by muscle weakness and problems with facial muscles. [rarediseases.org]

• Muscle Cramp

  […] atrophy Initial symptoms may include: 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 [thehumanthebody.com]

  However unlike muscle cramps, fatigue is not a prominent early symptom.[5]. [explainmedicine.com]

  Symptoms may include muscle wasting, clumsy hand movements, fasciculations and muscle cramps. The trunk muscles and respiration may be affected and the disease develops into ALS in many patients. f. [advancedpsy.com]

  Results: First symptoms were muscle cramps and fasciculations after age 25–30, followed by a slowly progressive proximal and distal weakness without overt atrophy during the first decades of symptoms. [neurology.org]

  Muscle cramps and fasciculations, with onset in the third decade, were the presenting symptoms among 12 patients in these eastern Finland families. [ahcmedia.com]

• Myalgia

  Myalgias, usually in the neck and back but also in the limbs, were reported in six of 12 patients. [ahcmedia.com]

  Patients with acute poliomyelitis present with fever, headache, myalgias, and gastrointestinal disturbance. Weakness, wasting, and depressed reflexes begin to appear during the first or second week of the illness. [neupsykey.com]

  In the approximately 1% of patients who progress to paralytic disease, localized fasciculations with intensely painful myalgias occur after 2 to 5 days of illness. 74 Asymmetric weakness and atrophy affecting the legs more often than either the arms or [clinicalgate.com]

  Postpolio syndrome Most patients with postpolio syndrome (PPS) present with new, slowly progressive muscle weakness, frequently accompanied by muscle pain (myalgias) and fatigue, which can occur in both previously affected and unaffected muscles. [emedicine.medscape.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]

• Tremor

  MITSUOKA KYOKO, KATSUOKA HIROYUKI, HARADA AKIRA, TANAKA TOMOTAKA, NAKAMURA SHIGENOBU 広島県立病院医誌 30(1) 143-146 Dec 1998 A case of tremor-complicated multifocal demyelinating motor neuropathy which acutely developed after the cold symptoms. [researchmap.jp]

  […] usually able to sit unattended, but cannot stand or walk without assistance Weak respiratory muscles, which can inhibit coughing Breathing problems Weakness in the muscles of the arms and especially of the legs Swallowing and feeding problems Slight tremor [thehumanthebody.com]

  Symptoms may include hypotonia, diminished limb movements, lack of tendon reflexes, fasciculations, tremors, swallowing and feeding difficulties and impaired breathing. [advancedpsy.com]

  Coarse hand tremor was demonstrable in four patients, and two experienced drop attack-like episodes. [ahcmedia.com]

  […] the arms Muscle aching Joint overuse symptoms Late adolescence/adulthood (adult-onset) Highest motor milestone achieved ALL Characteristics Physical symptoms are similar to juvenile-onset spinal muscular atrophy, with the gradual onset of weakness, tremors [togetherinsma.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]

• 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]

• Hand Tremor

  Coarse hand tremor was demonstrable in four patients, and two experienced drop attack-like episodes. [ahcmedia.com]

  Symptoms include weakness of the facial and tongue muscles, hand tremor, muscle cramps, dysphagia, dysarthria and gynecomastia. Weakness usually begins in the pelvis before spreading to the legs. [advancedpsy.com]

  […] in Both Hands KATSUOKA Hiroyuki, MIMORI Yasuyo, HARADA Akira, KITAMURA Takeshi, KUROKAWA Katsumi, NAKAMURA Shigenobu Nippon Ronen Igakkai Zasshi. [researchmap.jp]

  Some patients complain of exercise-induced muscle cramps and hand tremors several years before weakness develops. Proximal muscles are affected first, followed by bulbar involvement, which may become marked. [neupsykey.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]

• Slurred Speech

  speech Drooling Difficulty swallowing and breathing in more advanced stages Less commonly, symptoms firstly appear in the tongue or hands and progresses downwards to the spinal cord and legs [thehumanthebody.com]

  Early symptoms can include: weakness in your ankle or leg – you might trip, or find it harder to climb stairs slurred speech, which may develop into difficulty swallowing some foods a weak grip – you might drop things, or find it hard to open jars or [nhs.uk]

  Other symptoms include hoarseness, dysphagia, and slurred speech; because swallowing is difficult, salivation appears to increase, and patients tend to choke on liquids. [msdmanuals.com]

  […] with global cerebral demyelination Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Episodic ataxia type 1 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 Episodic ataxia with slurred [se-atlas.de]

  Similar brief episodes of numbness or weakness of a limb or difficulty in speech suggest an attack in the carotid artery, while a brief reduction in consciousness, vertigo, slurred speech, impaired vision in both eyes, or imbalance may signify ischemia [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]

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]