No abstract

200 case histories were analyzed (108 males and 92 females). 55 patients were under the author’s personal observation, 145 cases were taken from the literature. There were 163 hereditary and 37 ‘sporadic’ cases. Both the patterns of distribution of muscular atrophies in different phases of the disorder and the changes in their extension throughout the whole course of the disease process were studied. According to the data on the clinical manifestation and genetics, the facioscapulohumeral type can be considered as an independent form. The best name for it is ‘facio-scapulo-limb (FSL) muscular dystrophy’, adding the eponym ‘Duchenne-Lan-douzy-Déjerine’. There are two varieties of the extension of muscular atrophies in the FSL type: the gradually descending variety and the more frequent descending one, characterized by a ‘jump’ from the upper part of the body to the peroneal group of the shin muscles (the descending variety with a ‘jump’). Five clinical syndromes were distinguished, representing various phases in the two varieties of FSL muscular dystrophy. In particular, the facio-scapulo-(humero)-peroneal syndrome may be the principal stage in the disease process. The findings confirm the existence of the autosomal-dominant type of inheritance of FSL muscular dystrophy with complete penetrance and variable expressivity of the gene. Genealogical analysis of 62 families suggests the existence of a clinical and genetic heterogeneity in FSL myodystrophy.

Acute porphyrias are a group of inherited metabolic disorders representing overproduction syndromes with the formation of neurotoxic haem precursors. Clinical manifestations consist of acute attacks, which include abdominal pain, dysautonomia, mental symptoms, polyneuropathy and seizures mimicking many other acute neurological disorders.Porphyrin metabolites were screened in 108 patients with acute polyneuropathy or encephalopathy associated with pain and/or dysautonomia, who attended neurological wards, in order to evaluate the number of patients with acute porphyria.Urinary porphyrins and their precursors were increased in 21% of the cases. Surprisingly many patients (11%) had previously undiagnosed acute porphyria. Half of these patients had had mild to moderate symptoms of acute porphyria previously. Secondary porphyrinuria, which was mainly transient coproporphyrinuria because of hepatopathy, was also common (10%). Of the 108 patients studied, the levels of urinary porphyrins or their precursors were normal in the majority (79%) of the cases, who commonly had Guillain-Barré syndrome (40%). Epileptic seizures were also frequent (18%), but none of the patients with acute porphyria had solely epileptic seizures without prolonged confusion (>or= 1 day).Based on our findings, acute inherited porphyria is not infrequent among the selected group of neurological patients and screening of urinary PBG is cost-beneficial. Since the correct diagnosis of a hereditary disease is essential, genetic screening should be performed whenever possible for patients with clinically and biochemically confirmed acute porphyria.

Focal degenerative changes of skeletal muscle fibers (decrease in mean diameter, excessive axonal branching and a decrease in the mean diameter of motor end-plates together with a reduction of their acetylcholinesterase levels) were found by means of the experimental model thyrotoxic myopathy in mice compared to controls. A decrease in protein kinase affinity to cAMP and an increase in the number of nucleotide binding sites were revealed with a simultaneous decrease in cAMP level. The weakening of hormonal control of cAMP-dependent processes is probably the basic cause of muscular weakness and structural changes in skeletal muscles in thyrotoxic myopathy.

One hundred forty-two patients (66 men and 76 women) from 20 autosomal-dominant pedigrees and 3 families including 5 "sporadic" cases were examined. A great similarity of clinical manifestations among those affected was noted. Clinical variability of phenotypes reflecting various phases of the disease and different expressions of the mutant gene were always within the limits of the identical final phenotype of the disease, namely the facio-scapulo-humero-peroneal-femoro (posterior group of the muscles)-gluteal (gluteus maximus). Thus, the clinically and genetically homogeneous group of patients with autosomal-dominant descending with a "jump" form of facioscapulohumeral dystrophy (FSHD), called facioscapuloperoneal dystrophy (FSPD), was examined. Among the observed cases we did not come across any having the autosomal-dominant gradually descending form of FSHD, called facioscapulolimb dystrophy (FSLD), in which the pelvic and proximal lower limb muscles get weak earlier than in the peroneal group (anterior tibial) muscles. We could not reveal the "pure" facioscapulohumeral phenotype of muscle weakness in 142 examined patients. A "pure" FSHD does not exist as a nosological entity. It represents only the syndrome which characterizes the initial phase of FSLD, but not of the FSPD. It is quite probable that FSPD and FSLD which may be differentiated clinically are two different diseases connected with the mutation of allelic or even different genes. Linkage studies in FSPD and FSLD mapping genes would confirm this data.