H Karasoy | PubMed Health

PubMed2001

Electrophysiological evaluation of oropharyngeal swallowing in myotonic dystrophy.

OBJECTIVE: Oropharyngeal dysphagia is a common feature of patients with myotonic dystrophy and is not usually perceived due to their emotional deficits and lack of interest. The aim was to show the existence and frequency of subclinical electrophysiological abnormalities in oropharyngeal swallowing and to clarify the mechanisms of dysphagia in myotonic dystrophy. METHODS: Eighteen patients with myotonic dystrophy were examined for oropharyngeal phase of swallowing by clinical and electrophysiological methods. Ten patients had dysphagia whereas 11 patients had signs and symptoms reflecting CNS involvement. Four patients with myotonia congenita and 30 healthy volunteers served as controls. Laryngeal movements were detected by means of a piezoelectric sensor. EMG activities of the submental muscle (SM-EMG) and needle EMG of the cricopharyngeal muscle of the upper eosophageal sphincter (CP-EMG) were also recorded during swallowing. RESULTS: In about 70% of the patients with myotonic dystrophy, the existence of oropharyngeal dysphagia was indicated objectively by means of the technique of "dysphagia limit" and by clinical evaluation. Duration of the swallowing reflex as defined by the laryngeal relocation time (0-2 time interval) and submental muscle excitation as a part of the swallowing reflex (A-C interval) were significantly prolonged in patients with myotonic dystrophy, especially in dysphagic patients. Triggering time of the swallowing reflex (A-0 interval) also showed significant prolongation, especially in the patients having both dysphagia and CNS involvement. During swallowing, CP muscle activity was abnormal in 40% of the patients with myotonic dystrophy. CONCLUSION: Both myopathic weakness and myotonia encountered in oropharyngeal muscles play an important part in the oral and the pharyngeal phases of swallowing dysfunction in myotonic dystrophy. It was also suggested that CNS involvement might contribute to the delay of the triggering of the swallowing reflex and some abnormal EMG findings in the CP sphincter, resulting in oropharyngeal dysphagia in myotonic dystrophy.

Adult↗

PubMed1991

X-linked spastic paraplegia.

This paper describes a family with 10 males affected by x-linked spastic paraplegia. X-linked inheritance is rarely encountered in pure and complicated forms of hereditary spastic paraplegia. The disease was characterized by hyperreflexia, progressive spastic gait disorder, extensor plantar responses and mental retardation in all of the affected members of the family we studied. In addition to these symptoms, the older patients had cerebellar findings, severe disability and contractures. This is the 13th family manifesting x-linked spastic paraplegia reported in the literature.

Adolescent↗

PubMedDate not supplied

Proton MR spectroscopy in Rett syndrome.

Seven patients (mean age 7.7yr) with Rett syndrome, a condition with progressive regression of psychomotor development are included in this study. Proton MR spectroscopy images were obtained with the multivoxel chemical-shift imaging mode (TR=1500ms, TE=40ms). Spectra from 224 voxels in the brain parenchyma were studied. N-acetyl aspartate (NAA), creatine (Cr), choline (Cho), and myoinositol (mI) peaks were quantitatively evaluated, and NAA/Cr, NAA/Cho, and Cho/Cr, mI/Cr ratios were calculated. Five age-matched normal cases were available as controls. In three patients with Rett syndrome spectroscopy findings were normal, and the metabolite ratios were similar to control cases. In the remaining four patients with the syndrome prominent decrease of the NAA peak was the main finding resulting in decreases in NAA/Cr (1.14+/-17), and NAA/Cho (1.08+/-27) ratios (p<0.0001). Cho/Cr ratios (0.93+/-26), and mI/Cr ratios (0.88+/-36) were normal compared to controls. There was no correlation between spectroscopic changes and clinical status of the patients. The findings suggested that not only reduced neuronal-dendritic arborizations but also decreased neuronal function could contribute to spectroscopy changes in Rett syndrome.

Brain↗