[Charcot-Marie-Tooth disease. Peroneal muscular atrophy].

The classification of Charcot-Marie-Tooth disease is provisional, because the chromosome and gene localization is still not precisely known, and gene products have not been identified. This article presents an analysis of the clinical, genetical and neurophysiological data of eight Charcot-Marie-Tooth patients. The study was carried out to find out if it is possible to classify the disease from neurophysiological and genetical data.

Fat infiltration, atrophy and hypertrophy of skeletal muscles demonstrated by X-ray computed tomography in neurological patients.

Since 1982, we have used X-ray computed tomography (CT) to study the skeletal muscles of neurological patients. We present here the findings in 23 patients with myogenic and 29 patients with neurogenic diseases. The method is convenient to demonstrate fat infiltration, atrophy and hypertrophy of skeletal muscles, but is of little help in differentiating between the 2 disease categories or individual diagnoses.

Conchotome and needle percutaneous biopsy of skeletal muscle.

Percutaneous muscle biopsy is an important and acceptable technique in the study of conditions involving human skeletal muscle. A review of 436 conchotome and needle muscle biopsies obtained over 18 months in this centre is presented.

Primidone and propranolol in essential tremor: a study based on quantitative tremor recording and plasma anticonvulsant levels.

Primidone was compared to the unselective beta adrenoceptor antagonist propranolol in the suppression of essential tremor. In a 4-week single-blind placebo-controlled study primidone was given in increasing doses from 62.5 mg X 1 up to 250 mg X 3 daily and propranolol 20 mg X 3 daily.

Familial combined deficiency of muscle carnitine and carnitine palmityl transferase (CPT).

Two patients, brother and sister, aged 19 and 16, with combined, partial deficiency of carnitine palmityltransferase (CPT) are reported. Both patients had recurrent exercise-related myoglobinuria. The brother had also experienced an episode of transient renal failure associated with myoglobinuria.