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)

This paper presents an account of chronic-progressive Spinobulbar Spasticity (SBS) or Primary Lateral Sclerosis (PLS), a rare syndrome involving degeneration of the upper motoneuron, on the basis of 6 clinically examined cases. Individuals of both sexes can be affected. Onset of the syndrome occurs around the age of 54, but may sometimes be before 50. Early symptoms of the disease are spasticity on one leg and disturbance of motor skills in one hand. The symptoms generalize within two to three years into tetraspasticity accentuated in the legs, accompanied by pseudo-bulbar dysarthria and dysphagia, which, however, may also be present at the onset of the disease. Compulsive laughing and crying, optokinetic disturbances and facial stiffness develop as additional, though inconstant symptoms. Disease courses of 25 years were observed. Therapy is symptomatic. Fasciculation and muscular atrophy, which would indicate a transition to Amyotrophic Lateral Sclerosis (ALS), were not observed even if the disease was of longstanding. SBS differs from spastic spinal paralysis by virtue of its greater mean age of incidence, its tetraspasticity in conjunction with pseudobulbar signs, and-so far as can be established to date-its apparent non-hereditariness. An influence of exotoxic factors has not been demonstrated so far. The clinical syndrome results from a selective degeneration of the corticospinal and cortico-bulbar tracts up to the motor cortex, where loss of original pyramidal cells has been shown to occur (Pringle et al., 1992). The paper includes a survey of the clinical and neuropathological findings in cases of SBS published so far. Extensive anamnestic and clinical records including TCMS-studies, PET and NMR-CT scans performed in the parasagittal plane are essential for early diagnosis of the syndrome.
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PMID:[Chronic progressive spinobulbar spasticity (primary lateral sclerosis)]. 867 41

We report a case with double primary intracranial tumors of different cell types without phacomatosis. The patient was hospitalized due to progressive memory impairment, headaches, dysarthria and right hemiparesis. Initial computed tomographic (CT) examinations revealed a large hyperdense tumor over the right frontal lobe, suggestive of an extra-axial meningioma. Additionally, there was unusual brain edema in the contralateral hemisphere that subsequently proved to originate from an intrinsic tumor. Staged craniotomies were used to treat the patient. Pathological examinations confirmed the two tumors to be a meningioma and a glioblastoma multiforme, respectively. The patient made an uneventful recovery after treatment. Although meningioma and glioma represent two common primary intracranial tumors, the simultaneous development of the two tumors is rare. A randomly occurring event most likely accounted for this linkage in the patient. We suggest that extraordinary brain edema far remote from the primary brain lesion warrants special attention for identifying other potentially undetected lesions.
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PMID:Two primary brain tumors, meningioma and glioblastoma multiforme, in opposite hemispheres of the same patient. 1238 24

The present study aims to demonstrate that errors when writing are more common than expected in patients affected by primary lateral sclerosis (PLS) with severe dysarthria or complete mutism, independent of spasticity. Sixteen patients meeting Pringle's et al. [34] criteria for PLS underwent standard neuropsychological tasks and evaluation of writing. We assessed writing abilities in spelling through dictation in which a set of words, non-words and short phrases were presented orally and by composing words using a set of preformed letters. Finally, a written copying task was performed with the same words. Relative to controls, PLS patients made a greater number of spelling errors in all writing conditions, but not in copy task. The error types included: omissions, transpositions, insertions and letter substitutions. These were equally distributed on the writing task and the composition of words with a set of preformed letters. This pattern of performance is consistent with a spelling impairment. The results are consistent with the concept that written production is critically dependent on the subvocal articulatory mechanism of rehearsal, perhaps at the level of retaining the sequence of graphemes in a graphemic buffer. In PLS patients a disturbance in rehearsal opportunity may affect the correct sequencing/assembly of an orthographic representation in the written process.
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PMID:Dysgraphia in patients with primary lateral sclerosis: a speech-based rehearsal deficit? 1909 41