Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an inherited X-linked degenerative disorder characterised by slowly progressive proximal limb weakness, bulbar weakness, fasciculations, signs of androgen insensitivity and characteristic EMG findings. The disease is caused by a trinucleotide (CAG) repeat in the androgen receptor gene. We describe a patient with atypical symptoms who was initially misdiagnosed after presenting with weakness of mm. masseter and mm. temporales that caused his jaw to hang open. The initial diagnosis was suspicion of myasthenia gravis or ALS. Genetic testing later confirmed the diagnosis of Kennedy's disease.
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PMID:["Jaw drop" as an atypical manifestation of Kennedy's disease]. 1613 77

We report the autopsy findings of a 62-year-old man who exhibited progressive FTD 10 years before the appearance of muscle weakness and wasting, and who died approximately 11 years after onset of the symptoms. Degeneration and atrophy of the frontal and temporal lobes, which contained ubiquitin-positive neuronal inclusions and dystrophic neurites, were evident. Circumscribed degeneration affecting the hippocampal CA1-subiculum border zone was also a feature. Moreover, degeneration was present in both the upper and lower motor neuron systems, the latter being more severely affected. A few lower motor neurons were found to contain the cytoplasmic inclusions characteristic of ALS (i.e. Bunina bodies and ubiquitin-positive skeins). Also of interest was the presence of pallidonigroluysian atrophy, which appeared to be responsible for the chorea-like involuntary movements that developed in this patient approximately 2 months before death. The clinical and pathological features of our patient further support the idea that motor neuron disease-inclusion dementia (MND-ID), which has been classified as a pathological subgroup of FTD, is a forme fruste of ALS with dementia. In other words, if patients with MND-ID live long enough, they may develop ALS.
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PMID:Is motor neuron disease-inclusion dementia a forme fruste of amyotrophic lateral sclerosis with dementia? An autopsy case further supporting the disease concept. 1619 38

We report a 59-year-old woman with generalized amyotrophy and dementia. She showed personality change at 53 years of age. When she was 56 years old, she began to show abnormal and violent behaviors. At age 58, she developed dysphagia and amyotrophy of upper limbs. She was admitted to a hospital for the treatment of aspiration pneumonia. She was severely demented and showed pseudobulbar palsy, amyotrophy of tongues, weakness of upper limbs, and pyramidal signs. She was still able to walk by herself. Dementia, pseudobulbar palsy, and amyotrophy progressed rapidly. At age 59, she became bed ridden and required tube feeding. She died by aspiration pneumonia at age 59. The patient was discussed at a neurological CPC and the chief discussant arrived at the conclusion that the patient had ALS dementia. Other possibility discussed was Pick's disease with amyotrophy. Post-mortem examination revealed severe lower motor neuron degeneration. The upper motor neurons were unaffected. Neuronal loss was not observed in the cerebral cortex, but moderate gliosis was seen in the cerebral white matter. In addition, the substantia nigra was moderately degenerated. There were ubiquitin positive neuronal inclusions in the granular cells of the dentate gyrus. Also, Bunina bodies were seen in the neurons of spinal anterior horns. These findings were characteristic pathology for ALS with dementia.
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PMID:[A 59-year-old woman with personality change and abnormal behavior followed by amyotrophy and dementia]. 1624 71

We report a family with autosomal dominant (AD) motor neuron disease. A 41-year-old man developed muscle weakness and fasciculation of the lower extremities. The weakness progressed to the upper extremities and bulbar muscles. The cerebrospinal fluid (CSF) protein level was slightly elevated. A nerve conduction study revealed reduced compound muscle action potentials, but conduction block was not observed. Electromyogram showed acute and chronic neurogenic changes. He was treated with intravenous immunoglobulin (IVIg) and methylprednisolone pulse therapy, but his condition rapidly deteriorated. He developed respiratory failure necessitating artificial ventilation within three months after the onset of the disease. His father developed muscle weakness and atrophy of the upper extremities at age 70, and his cousin developed muscle weakness of the legs at age 41. Their conditions rapidly progressed to quadriplegia. CSF and electrophysiological findings were similar to those of the proband. Treatments by steroid pulse therapy, IVIg, and plasmapheresis were not effective. The father and cousin also required artificial ventilation within 3-4 months from the onset of symptoms, and became locked-in state. Autosomal dominant amyotrophic lateral sclerosis (AD-ALS) was considered, but SOD1 gene mutation was not detected. The present pedigree may have familial ALS caused by a gene mutation other than SOD1.
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PMID:[Familial amyotrophic lateral sclerosis with rapid progression]. 1636 40

We report two patients diagnosed to have familial amyotrophic lateral sclerosis (FALS). A 40 year old lady had progressive weakness and atrophy of the limbs and bulbar palsy from the age of 39 years and with electrophysiological evaluation was confirmed as definite ALS. Her mother had presented in 1978 at the age of 42 years with symptoms and signs of ALS. The other patient was a 43 year old male with rapidly progressive weakness, wasting and spasticity of the limbs and bulbar palsy of 4 months duration and with electrophysiological evidence of diffuse anterior horn cell involvement. His father also had onset of illness at 43 years of age with gradually progressive spasticity and atrophy of the extremities followed by bulbar palsy. In the first instance the mother had a duration of illness of 8 years while in the second the father lived for 15 years after the onset of illness.
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PMID:Familial amyotrophic lateral sclerosis: first report from India. 1693 97

Four patients with postpolio syndrome (PPS) developed ALS. Weakness and atrophy started from previously unaffected extremities but, contrary to PPS, spread to all muscles leading to death within 0.4 to 8 (mean 3.9) years. Upper motor neuron signs were absent in the atrophic limbs. Abundant spontaneous activity and group atrophy in newly affected muscles were prominent. ALS can rarely occur in the postpolio population starting de novo rather than as evolution of PPS.
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PMID:The challenge of diagnosing ALS in patients with prior poliomyelitis. 1700 Sep 83

In individuals with ALS rehabilitation is mainly designed to prevent fatigue and contracture, to improve independence and activities for as long as possible, to optimize ability to live with the handicap, and finally to maximize quality of life. The functional impairment must be defined and physical therapy techniques have to be adapted to each patient and reevaluated frequently during the course of the disease. Various types of massage and exercise, monitored by a physical therapist are effective. Strengthening or endurance exercises are controversial as exercise may injure muscle fibres and motor neurons. Isometric exercise, short of fatigue, of unaffected muscles is recommended. Range of motion exercise is critically important for preventing contraction. Assistive and adaptative equipments are essential for maintaining the patient's activities of daily living and home equipment preserves independence. Several orthoses for hand, arm, foot or cervical weakness are available. A wheelchair is an important adaptative device when walking becomes too fatiguing or impossible. Choice for special options and features may require attention. Pulmonary complications are prevented with adapted techniques for bronchic obstruction. Based on the degree of weakness of limb and axial muscles six stages of functional impairment can be defined ranging from fully ambulatory in stage I to bedridden and totally dependent in stage VI. This staging provides a framework for physical therapy evaluation and guidance for appropriate rehabilitation in ALS patients.
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PMID:[What physical therapy techniques can be used to improve airway freedom in amyotrophic lateral sclerosis?]. 1712 18

Lou Gehrig was one of the most talented baseball players of all time; yet he is also remembered for ALS, the disease that took his life and still bears his name as its eponym. There is speculation about when his symptoms began. Some authorities believe that Gehrig showed signs of ALS when he starred in the film Rawhide in January 1938, which would mean that he played the entire 1938 season with symptomatic ALS. Additionally, some photographs of Gehrig showing atrophy of hand muscles have been dated incorrectly because of misinterpreted logos on his uniform. We examined the film and photos taken of Gehrig from 1937 to 1939 to determine whether he showed signs of weakness in the film and when visible evidence of ALS could be documented. Specific scenes from Rawhide were chosen to grade Gehrig's motor function using the ALS Functional Rating Scale (ALSFRS). Dates of photos and uniform logos were verified with the Baseball Hall of Fame. Examination of Rawhide showed that Gehrig functioned normally in January 1938. His ALSFRS score, modified to account for limitations of on-screen activities, was normal. The New York Yankees wore logos in 1938 that were labeled with the year 1939 to advertise the 1939 World's Fair; the uniforms displayed a centennial patch during the 1939 season. A photograph of Gehrig from October 1939 showed hand atrophy. Photos from the spring of 1938 showed normal hand muscles and leg function, implying that visible signs first appeared after May 1938.
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PMID:Lou Gehrig, rawhide, and 1938. 1731 36

We describe a patient with familial amyotrophic lateral sclerosis (FALS) in whom we identified a substitution of G for CGTTTA at codon 144 in the Cu/Zn superoxide dismutase 1 (SOD1) gene, causing amino acid changes from leucine to phenylalanine, valine and a stop codon (L144FVX). This mutation is novel, and so we report the clinical and neuropathological features of this case compared with those of other FALS cases with SOD1 mutations. A 39-year-old woman developed muscle weakness and atrophy in the hands, which rapidly progressed and expanded to other muscles, resulting in respiratory insufficiency and death at only 10 months after the onset Her grandmother, father and uncle had also been diagnosed as having ALS. The most noticeable neuropathological findings in the present case were marked loss of large motor neurons in the anterior horns associated with the frequent appearance of cord-like swollen, partially SOD 1- and ubiquitin-immunopositive axons. These findings together with the absence of Bunina bodies are compatible with the neuropathology of FALS with SOD1 gene mutation, although Lewy body-like inclusions characteristic for this condition were not observed.
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PMID:[Familial amyotrophic lateral sclerosis (FALS) with a novel SOD1 gene mutation: a clinicopathological study]. 1758 2

Progressive loss of motor neurons causes Amyotrophic Lateral Sclerosis. Patients complain, most often, of progressive weakness in the distal limbs. However, weakness may manifest in any body segment (bulbar, cervical, thoracic, or lumbosacral). The diagnosis of ALS is suggested by clinical examination that reveals both upper and lower motor neuron failure. Formal diagnostic criteria have been developed and validated. Nerve conduction and electromyography studies improve diagnostic sensitivity and exclude some alternate, treatable diagnoses. Likewise, conventional imaging studies and laboratory evaluation refute other diseases that may masquerade as ALS. Experimental imaging and laboratory evaluations may improve ALS diagnosis in the future. The cause of motor neuron death is not known but inherited forms of motor neuron disease may suggest mechanisms. The goal of ALS treatment is control of the symptoms of progressive weakness, especially respiratory insufficiency and dysphagia and is best managed in an integrated clinic.
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PMID:Clinical presentation and diagnosis of amyotrophic lateral sclerosis. 1819 25


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