Congenital fiber type disproportion--30 years on.

Thirty years ago, M. H. Brooke coined the term "congenital fiber type disproportion" (CFTD) to describe 12 children who had clinical features of a congenital myopathy and relative type 1 fiber hypotrophy on muscle biopsy. It is now clear that this histological pattern can accompany a wide range of neurological disorders, leading to disillusionment with CFTD as a distinct nosological entity. To determine whether the CFTD has clinical utility as a diagnostic entity, we have reviewed the literature for cases of type 1 fiber hypotrophy and have used strict exclusion criteria to identify 67 cases of CFTD. Most patients presented at birth with weakness and hypotonia, had normal intelligence, and followed a static or improving clinical course. In 43% of families, more than 1 individual was affected. Failure to thrive was common and 25% of patients had contractures or spinal deformities. Bulbar weakness and ophthalmoplegia were less common and cardiac involvement was rare. Twenty-five percent followed a severe course and 10% had died at the time of reporting, all from respiratory failure. Ophthalmoplegia and facial and bulbar weakness were significantly associated with a poorer prognosis. The relatively homogeneous phenotype supports the retention of CFTD as a distinct diagnostic entity and familial occurrence suggests a genetic basis. Regarding the diagnosis of CFTD, we found no strong evidence that the minimum difference between type 1 and type 2 fiber sizes should be increased from 12% to 25%. We also list the other reported causes of relative type 1 fiber hypotrophy to aid their exclusion from CFTD.

[Alfred Hauptmann - the fate of a german neurologist of jewish origin]. / Alfred Hauptmann - Schicksal eines deutsch-jüdischen Neurologen.

The pathway through life of the German psychiatrist and neurologist Alfred Hauptmann (1881 - 1948) and his work is described. It is exemplary for so many of his contemporaries of Jewish origin, who were forced to emigrate under the National Socialist dictatorship. Hauptmann's career was most of all marked by the short, but to him formative time with Max Nonne. Throughout his life his research focused on neurological topics. In 1926, Hauptmann got the chair of psychiatry at Halle University in order to continue the important neurological tradition of Eduard Hitzig, Carl Wernicke and Gabriel Anton. Until 1935, he worked as the director of the psychiatric clinic in Halle, but in the course of the Reichsbürgergesetz he had to give up his chair and his work as a doctor. The way into emigration, which was accelerated by the temporary imprisonment in the concentration camp Dachau, is described considering personal documents. After his emigration into the United States, Hauptmann was not too successful in starting new as a scientist. His most important contribution is still the article on the efficacy of Phenobarbital as an antiepileptic, which had been written already in 1912. For this reason, the Alfred-Hauptmann-Award for epilepsy research is awarded. In 1941 - after his emigration - he and Siegfried Joseph Thannhauser described the autosomal dominantly transmitted myopathy for the first time, which is today described as Hauptmann-Thannhauser myodystrophy. The name of Alfred Hauptmann should be unforgettable not only because of the entrance into medical nomenclature, but it should also remind of the man Alfred Hauptmann, standing for all those whose similar fates are still unknown until now.