摘要:

Additional study of six generations belonging to the K. kindred, which were previously investigated by Oransky in 1927 was carried out. 18 members of this kindred were studied. At the early stages of the disease a sharp dissimilarity of the phenotypes in the K. kindred resulting from the different rate of the development and intensity in the course of the disease was observed, varying from evident scapuloperoneal amyotrophy to the cases resembling Landouzy-Déjerine muscular dystrophy. At the late stages of the disease a considerable clinical similarity of those affected was noted. The clinical and genetic data allowed at the present time to consider the muscular dystrophy in the K. kindred as one of the varieties (namely, as a descending type with a ‘jump’) of the facio-scapulo-limb (or facioscapulohumeral) muscular dystrophy. The scapuloperoneal syndrome could be a long stage in the development of the disorder in some members of the K. kin

ISSN:0014-3022    

DOI:10.1159/000114689

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

EMG, nerve conductions, repetitive nerve stimulation and SSEPs were studied in 14 patients with dystrophia myotonica. Fibrillation potentials were seen in two of these patients. Motor nerve conduction velocities of the medial popliteal nerve were decreased in 4 of the 13 patients studied. Three of these patients also showed decrease in the antidromic sensory conduction velocities. Motor conduction velocities of the lateral popliteal nerve were similarly reduced in four patients. Taking both the nerves into consideration, 6 of the 14 patients showed a decrease in the motor nerve conduction velocities of either, or both, of these nerves. Repetitive nerve stimulation showed abnormal responses in 13 of these 14 cases. SSEPs from stimulation of the lateral popliteal nerve showed increased latencies in three of the ten cases studied. Sensory conduction velocities as measured from SSEPs were decreased in three of the four cases. SSEPs for the medial popliteal nerve showed similar values. The significance of these abnormalities has been discussed.

ISSN:0014-3022    

DOI:10.1159/000114690

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

In the cases of Charcot-Marie-Tooth disease associated with essential tremor so far reported, motor conduction velocity studies strongly suggested that demyelination was a prominent feature of the neuropathy. For the first time two sibs are reported in whom the electrophysiological changes favour axonal degeneration as the main trait of their peripheral neuropathy.

ISSN:0014-3022    

DOI:10.1159/000114691

出版商:S. Karger AG    

年代:1975

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000114692

出版商:S. Karger AG    

年代:1975

数据来源: Karger

ISSN:0014-3022    

DOI:10.1159/000114693

出版商:S. Karger AG    

年代:1975

数据来源: Karger