[Neurological and muscular manifestations of thalassemia major (author's transl)].

Five out of 89 sicilian children with homozygous thalassemia major had central nervous system signs but they were probably not due to the disease. Much more commonly peripheral nerve or muscle involvement was detected. Among 51 patients who had detailed clinical and electrophysiological studies (EMG and nerve conduction studies) 20 (39.2%) had clinical signs of neuro-muscular disease and five others had electrophysiological abnormalities only. Serum CPK was normal in all cases. The results suggest that muscle disease in thalassemia major is mostly of neurogenic origin.