Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Motor neuron disease encompasses a group of progressive neurologic disorders that destroy cells responsible for the control of essential muscles. The disorders are characterized by progressive weakness, muscle atrophy and fasciculation, spasticity, dysarthria, dysphagia, and respiratory compromise. A 66-year-old male presented to the emergency department with progressive dyspnea and, ultimately, respiratory failure. In spite of extensive cardiopulmonary evaluation, a cause could not be identified except aging. After complete history taking, physical and neurologic examination, motor neuron disease was suspected at last. Thus, elderly patients with dyspnea in the emergency department could have hidden diseases beyond the normal aging process.
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PMID:A case of motor neuron disease presenting as dyspnea in the emergency department. 2274 95

We report an autopsy case of progressive supranuclear palsy (PSP) that clinically showed only slowly progressive and symmetric upper motor neuron syndrome over a disease course of 12 years. A female patient initially exhibited dysarthria at the age of 65, followed by gait disturbance and dysphagia. Neurological examination at age 67 disclosed pseudobulbar palsy, spastic gait, hyperreflexia, and presence of bilateral Hoffmann and Babinski signs. However, muscle atrophy, weakness, evidence of denervation on electromyography, vertical gaze palsy, parkinsonism, gait freezing, aphasia, speech apraxia, or dementia was not noted throughout the course. She was clinically diagnosed as having motor neuron disease consistent with so-called primary lateral sclerosis. Pathological examination disclosed histopathological features of PSP, including argyrophilic and tau-positive tufted astrocytes, neurofibrillary tangles, coiled bodies, and thread-like processes in the motor cortex and superior frontal gyrus, and to a lesser degree, in the basal ganglia and brain stem nuclei. In addition, severe fibrillary gliosis was noted in the precentral gyrus and corticospinal tract, being consistent with upper motor neuron syndrome observed in this case. No TAR-DNA binding protein 43-positive lesion, FUS pathology, Bunina body, or Lewy body-like hyaline inclusion was noted in the motor cortex or lower motor neurons. These findings suggest that when tau pathology is prominent in the motor cortex but is minimal in the basal ganglia and brain stem nuclei, a PSP case can lack all classic clinical features of PSP and show only slowly progressive upper motor syndrome, consistent with clinical picture of primary lateral sclerosis.
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PMID:Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia. 2357 Sep 81

We retrospectively analyzed the clinical features of two cases of neurodegenerative disease, whose initial symptoms were motor speech disorder and dementia, brought to autopsy. We compared the distributions of pathological findings with the clinical features. The main symptom of speech disorder was dysarthria, involving low pitch, slow rate, hypernasality and hoarseness. Other than these findings, effortful speech, sound prolongation and initial difficulty were observed. Moreover, repetition of multisyllables was severely impaired compared to monosyllables. Repetition and comprehension of words and sentences were not impaired. Neither atrophy nor fasciculation of the tongue was observed. Both cases showed rapid progression to mutism within a few years. Neuropathologically, frontal lobe degeneration including the precentral gyrus was observed. The bilateral pyramidal tracts also showed severe degeneration. However, the nucleus of the hypoglossal nerve showed only mild degeneration. These findings suggest upper motor neuron dominant motor neuron disease with dementia. We believe the results indicate a subgroup of motor neuron disease with dementia whose initial symptoms involve pseudobulbar palsy and dementia, and which shows rapid progression to mutism.
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PMID:Pseudobulbar dysarthria in the initial stage of motor neuron disease with dementia: a clinicopathological report of two autopsied cases. 2344 72

The aim of this study was to examine the use and practices of handwriting-in-interaction by people with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND). Handwriting has previously been described as a viable and practical means of augmentative and alternative communication, particularly for adults with acquired progressive dysarthria and intact upper limb control. To date, however, there is extremely limited evidence documenting how handwriting is used within a conversational context. The analysis in this paper features data from two people with ALS/MND in conversation at home with their spouses. It is shown how recipient animation of an authored written contribution is an important element of handwriting-in-interaction, particularly in how the recipient reveals his or her stance or reaction to whatever has been written.
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PMID:Handwriting-in-interaction between people with ALS/MND and their conversation partners. 2352 52

We report an autopsy case of a 48-year-old female clinically diagnosed with facial-onset sensory and motor neuronopathy (FOSMN) syndrome with TAR DNA-binding protein 43 (TDP-43) pathology. She developed paresthesia involving her whole face, right upper extremity and the right side of her upper trunk, followed by dysphagia, dysarthria, muscle atrophy and weakness with fasciculation in both upper extremities. Her symptoms showed a marked cranial and right-sided dominancy. She had anti-sulfoglucuronyl paragloboside (SGPG) IgG and anti-myelin-associated glycoprotein (MAG) IgG, and repeatedly showed limited response to immunotherapies. Her disease was essentially progressive, culminating in death due to respiratory failure three and a half years after onset. The autopsy revealed severe degeneration of the nuclei of the right trigeminal nerve and right facial nerve and widespread TDP-43-positive glial inclusions in the brainstem tegmentum. Neurons in the hypoglossal nerve nuclei were also shrunken and lost, with TDP-43-positive neuronal inclusions. Neuronal loss and gliosis in the anterior horn, predominantly in the cervical cord, were prominent with TDP-43-positive skein-like inclusions. Bilateral ventral roots were obviously atrophic. Spinal tract degeneration was also prominent in the ventral columns, essentially sparing the anterior corticospinal tracts at the cervical cord level. Additionally there was severe myelin pallor in the right spinal trigeminal tract and right fasciculus cuneatus of the cervical cord. The right spinal root ganglion showed numerous Nageotte's nodules and focal lymphocytic infiltration. The present case manifested FOSMN syndrome clinically, while the pathological findings suggested a motor neuron disease like TDP-43 proteinopathy and a possible involvement of immune-mediated neuropathy.
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PMID:TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome: an autopsied case report and a review of the literature. 2384 63

Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease leading to progressive paralysis that is generally fatal. Only 10% of cases are familial, a subset of which overlaps with frontotemporal dementia (FTD). Up to half of ALS patients have cognitive impairment, with 15% meeting the criteria for FTD. Clinical sequencing of UBQLN2 in a family with X-linked FTD/ALS with suspected incomplete penetrance, manifesting in both genders, revealed a P506S mutation in. Affected individuals were diagnosed with various conditions including hereditary spastic paraplegia (HSP), bulbar palsy and multiple sclerosis. The mutation in UBQLN2 was first identified in a 35-year-old female who presented with one year of progressive dysarthria, dyspnea, dysphagia, and cognitive decline. EMG suggested early motor neuron disease with prominent bulbar involvement. Her cognition declined rapidly and she developed extremity weakness. Her brother, initially diagnosed with HSP, and her second cousin, with primary lateral sclerosis, also have a P506S mutation in UBQLN2. In conclusion, the P506S mutation in UBQLN2 can affect both males and females and displays great phenotypic variability within the same family. Females can potentially have a more severe and rapidly progressive presentation than their male relatives. Additionally, the P506S mutation can also cause an FTD phenotype.
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PMID:Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2. 2394 34

Motor neuron diseases have been reported as a rare paraneoplastic syndrome (PNS) of a systemic neoplasm. We present a patient with amyotrophic lateral sclerosis (ALS) in association with neuroendocrine tumor (NET) of stomach, which is the first case of motor neuronopathy with underlying neuroendocrine tumor. A 79-year old woman presented with a two months history of progressive dysphagia, spastic dysarthria and marked fasciculation in her atrophic tongue. Gag reflexes were diminished bilaterally. Other cranial nerves were intact. In muscle testing there was significant atrophy in thenar and hypothenar areas of both hands compatible with diffuse motor neuronopathy with active denervation. Upper GI endoscopic study showed patchy erythematous mucosa with congestion in body of stomach, Histological biopsy of stomach confirmed the neuroendocrine tumor (NET). The importance of considering a paraneoplastic syndrome in a patient with presentation of ALS, which can leads to searching for underlying neoplasm before its apparent signs and symptoms, to initiate tumor treatment so much sooner. In addition even though paraneoplastic motor neuron disease is rare, treating the underlying neoplasm may resolve neurologic signs and symptoms.
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PMID:Amyotrophic lateral sclerosis as a paraneoplastic manifestation in the neuroendocrine tumor of stomach: a case report. 2433 48

Progressive muscle atrophy is a rare subtype of motor neuron disease that affects only the lower motor neurons and presents as asymmetrical rapidly progressive muscle weakness, atrophy and normal sensations. The diagnostic electrophysiological findings are denervation potentials in three out of four body segments (bulbar, cervical, thoracic and lumbosacral). The disease is fatal and the management is supportive. We present the report of a 45-year-old female patient who presented with unilateral foot drop and rapidly progressed to profound weakness in muscles of all limbs, neck and back along with dysarthria and dysphagia. She had been operated twice for suspected cervical and lumbosacral intervertebral disc herniations and ultimately guided in right direction after muscle biopsy, nerve conduction studies and electromyography.
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PMID:The diagnostic dilemma of progressive muscular atrophy. 2570 63

Juvenile amyotrophic lateral sclerosis (jALS) is characterized by progressive upper and lower motor neuron degeneration leading to facial muscle spasticity, spastic dysarthria, and spastic gait with an early onset (before 25 years old). Unlike adult-onset amyotrophic lateral sclerosis (ALS), patients with jALS tend to have slower progression of motor neuron disease and prolonged survival to a normal life expectancy. Mutations in FUS gene have been reported in jALS,(1) including p.P525L mutation that has been consistently associated with early onset and aggressive presentation.(2) Here, we report a patient carrying p.P525L FUS mutation and experiencing an aggressive course of ALS presenting with dysphonia and diplopia.
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PMID:De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. 2712 82

Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and eventual paralysis. Until recently, ALS was classified primarily within the neuromuscular domain, although new imaging and neuropathological data have indicated the involvement of the non-motor neuraxis in disease pathology. In most patients, the mechanisms underlying the development of ALS are poorly understood, although a subset of patients have familial disease and harbour mutations in genes that have various roles in neuronal function. Two possible disease-modifying therapies that can slow disease progression are available for ALS, but patient management is largely mediated by symptomatic therapies, such as the use of muscle relaxants for spasticity and speech therapy for dysarthria.
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PMID:Amyotrophic lateral sclerosis. 2905 11


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