Early onset myophosphorylase deficiency (Mc Ardle's disease) with absence of myophosphorylase protein on SDS electrophoresis. The role of the ischemic forearm test.

The authors present a case report of early onset myophosphorylase deficiency (Mc Ardle's disease) with absence of myophosphorylase protein on SDS-electrophoresis. The different varieties of myophosphorylase deficiency and the clinical investigations which may lead to the diagnosis are reviewed. In particular, the relevance and possible dangers of an ischemic forearm exercise test and the suggestion of using a needle biopsy as a preliminary screening in similar cases of metabolic myopathies are discussed.

Motor neuron rigidity. An electrophysiological, pharmacological and pathological study.

A 28-year-old male with generalized muscle stiffness and widespread muscle twitching is described. Continuous electrical activity was present at rest and could be abolished only by succinylcholine, curare, and block of the distal part of the peripheral nerve. Muscle biopsy revealed mild myopathic changes. In addition glycogen depletion was found in muscle fibres which were type IIb in one region of the biopsy and type I in another. With carbamazepine treatment marked improvement occurred both clinically and electromyographically. It is concluded that the abnormal electrical activity originated in the terminal branches of the peripheral motor nerve and that this activity was confined to muscle fibres belonging to single motor unit territories.

Electrophysiological exploration of the sacral conus.

Evoked urethral and anal responses are produced by electrical stimulation of penis, bladder neck and anus. Latency and duration of the responses after bladder neck and anal stimulation are greatly dependent on stimulus parameters, suggesting a polysynaptic reflex; penile stimulation probably involves an oligosynaptic pathway. In pathological conditions the responses are delayed and their duration reduced.

[Shulman's syndrome. Diffuse fasciitis with eosinophilia. A differential diagnosis from polymyositis (author's transl)]. / Un diagnostic différentiel de la polymyosite: le syndrome de Shulman. Fasciite diffuse avec éosinophilie.

A case of diffuse fasciitis with eosinophilia is reported. The clinical pattern of this disease has some resemblance with polymyositis. In 1974, Shulman described this syndrome as a new entity. The differential diagnosis of those inflammatory and sclerodermatous changes in the perimuscular fascia is considered. An histological, immunological and electrophysiological investigation has been performed. We propose an auto-immunological mechanism in the etiopathogenesis of this syndrome.