1/4. Bilateral phrenic neuropathy as a presenting feature of multifocal motor neuropathy with conduction block.Diaphragmatic paralysis has previously been reported as a result of diverse pathologic processes involving the peripheral nervous system. We report the clinical history, physical findings, and antibody profile of an atypical case of multifocal motor neuropathy with conduction block initially presenting with respiratory failure secondary to bilateral phrenic neuropathy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/4. Lower motor neuron disease associated with myelofibrosis.We present a patient who has signs pointing to the involvement of lower motor neurons and myelofibrosis. To our knowledge, unlike lymphoproliferative disorders, co-occurrence of myelofibrosis and lower motor neuron disease (MND) has not been reported so far. A 64-year-old male patient was admitted to our hospital with the complaint of painful cramps in his neck and forearms. On physical examination marked hepatomegaly and splenomegaly were found. On neurologic examination nasal quality of the voice and slight palatal weakness were detected. There were generalised slight weakness and atrophy in both proximal and distal muscle groups. Fasciculations were observed especially in forearm muscles and it was observed that he had been avoiding head movements because of painful muscle cramps. Deep tendon reflexes were hypoactive. Nerve conduction studies were normal. By needle electromyography, giant motor unit action potentials (amplitudes up to 8 mV), fibrillation potentials, positive sharp waves and fasciculation potentials were detected in all muscles which were investigated. A hypercellular bone marrow (100%) was determined by bone marrow biopsy. In addition to increased production of the myeloid and megakaryocytic lines, abnormal aggregation and grouping of megakaryocytes were seen. Reticular fibers were increased. He had some benefit of dyphenilhydantoin treatment given for the painful cramps in his neck and forearm muscles. hydroxyurea treatment was started for myelofibrosis. Six months later, his general condition was better, and the painful cramps were completely resolved. No marked deterioration has been detected in neurologic examination and electromyography for 1 year.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/4. A fatal case of cerebellar hypoplasia associated with anterior horn cell disease.A 27-month-old girl was admitted with inability to walk and speak. The pregnancy, labor and delivery were unremarkable. She was the second child of first degree consanguineous parents and the other 5-year-old child was healthy. On physical examination, she could sit without aid. Horizontal nystagmus and bilateral optic atrophy were diagnosed. Moderate hypotonicity and muscle atrophy were noted in the lower extremities, and deep tendon reflexes were found to be brisk. serum creatine kinase level was normal. Brainstem auditory evoked potential was also bilateral normal. Flash visual evoked potential was found to be prolonged bilaterally. magnetic resonance imaging of the brain showed severe cerebellar hypoplasia and mild cerebral atrophy. Electromyographic examination was consistent with anterior horn cell disease. Muscle biopsy specimen was unremarkable. Genetic analysis was unremarkable. The patient was diagnosed with cerebellar hypoplasia associated with anterior horn cell disease, which was named as amyotrophic cerebellar hypoplasia, Norman's disease or infantile neuronal degeneration in the literature. During the follow-up, the parents said that she died at the age of 34 months, because of probable infection.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/4. dysarthria of motor neuron disease: longitudinal measures of segmental durations.motor neuron disease encompasses a group of terminal, demyelinating diseases affecting upper- and lower-motor neurons and producing muscular weakness resulting in a flaccid, spastic, or spastic-flaccid dysarthria of speech. The present study presents measurements of the temporal-acoustic characteristics of dysarthria in three subjects with motor neuron disease over a two-year recording period. Changes seen over the course of the disease varied by type of motor neuron disease, though all types demonstrated some degree of neutralization of the prevocalic VOT, target vowel duration, and postvocalic closure duration. These changes are discussed with relation to physical manifestation and progression of the disease.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |