[Hereditary sensorimotor neuropathy in electrophysiological studies]. / Dziedziczna czuciowo-ruchowa neuropatia w obrazie elektrofizjologicznym.

We performed clinical and electrophysiological studies in 42 children with hereditary motor and sensory neuropathy type I and II (HMSN I and II) and in 103 members of their families. In 24 families with HMSN I the conduction velocity and latency were markedly changed in the nerves innervating the distal muscles (median, peroneal nerves) as well as proximal muscles (facial, axillary and musculocutaneous nerves). The changes were uniform in all motor and sensory nerves studied in a particular patient. The intensity of changes was similar in members of their families even when the clinical abnormalities were minimal, thus the degree of conduction velocity slowing was uniform within families. In adults with HMSN I (group A i B) we found less marked slowing of nerve conduction as compared to children (group P), the difference being significant (p < 0.001). It may suggest a slow process of peripheral nerves maturation despite the existing morbid condition. In patients of 18 families with HMSN II slight changes in conduction velocity were found only in nerves innervating the distal muscles, more evident in legs (peroneal and sural nerves). Conduction time of facial, axillary and musculo-cutaneous nerves was normal. The values of nerve conduction were not changing with patients' age. We recommend examining conduction time in facial, axillary or musculocutaneous nerve as a useful procedure for differentiation between HMSN I and II, especially in families with borderline conduction values in the nerves innervating distal muscles.

Electrophysiological findings in hereditary motor and sensory neuropathy type I and II--a conduction velocity study.

We performed clinical and electrophysiological studies in 42 children with hereditary motor and sensory neuropathy type I and II (HMSN I and HMSN II) and in 103 members of their families. In 24 families with HMSN I the conduction velocity and the latency were markedly changed in the nerves innervating the distal muscles (median, peroneal nerves), as well as proximal muscles (facial, axillary, and musculocutaneous nerves). The changes were uniform in all motor and sensory nerves studied in the particular patient. No nerve conduction worsening with age has been found in cross-sectional analysis. In patients with HMSN I the conduction velocity was impaired even when the clinical abnormalities were minimal. The degree of the conduction velocity slowing was uniform within majority of the families. Homogeneity of conduction velocity slowing in individuals with HMSN I regardless of clinical expression suggests a primary myelin defect as an underlying cause. In patients from 18 families with HMSN II slight changes in conduction velocity were found only in the nerves innervating the distal muscles, the latency of axillary and facial nerves was within normal range. We recommend examining conduction time in facial and axillary nerves as a useful procedure for differentiation between HMSN I and II, especially in families with borderline conduction values in the long nerves.

Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy.

DNA analysis was performed in 190 cases of Duchenne and Becker muscular dystrophies (DMD/BMD), including 150 cases with DMD and 40 cases with BMD, using Southern blotting and PCR multiplex techniques with application of 25 pairs of primers. Deletions in the overall material were found in 109 cases: 81 (54%) in patients with DMD and 28 (70%) in patients with BMD. All the deletions in DMD were out of frame with the exception of two cases, whereas in BMD all the deletions but two were in frame. Junction fragments were detected in 12 cases of DMD. In five cases duplications were found: four in patients with DMD and one in a patient with BMD.

[Detection of dystrophin gene mutation carrier state]. / Wykrywanie nosicielstwa mutacji genu dystrofiny.

RFLP polymorphism and the sequence of repeated CA were analysed by means of polymerase chain reaction in 62 families in which cases of DMD/BMD had occurred. The established carriers were suggested to undergo prenatal examinations for avoiding giving birth to a child with Duchenne or Becker type of muscular dystrophy.

[Separation of dystrophinopathies from the group previously classified as limb-girdle muscular dystrophies]. / Wyodrebnienie dystrofinopatii z grupy dystrofii rozpoznawanych jako obreczowo-konczynowe.

54 patients from 45 families were examined one to twelve years after the hospitalization in the Department of Neurology in Warsaw in period between the years 1980 and 1992. The diagnosis of the limb-girdle muscular dystrophy (LGMD) was established, or seriously considered during the first examination. Presently verification of the diagnosis is performed on the basis of DNA analysis and muscular dystrophin assessment. In 14 cases dystrophinopathy was revealed: 13 patients with Becker muscular dystrophy (BMD) and one female manifesting carrier. This examination is of great importance for genetic counselling and for correct diagnosis of sporadic male cases and girls manifesting carriership.

[Clinical-genetic studies of infantile and juvenile proximal spinal muscular atrophy]. / Badania kliniczno-genetyczne dzieciecego i mlodzienczego ksobnego rdzeniowego zaniku miesni.

The present paper describes clinico-genetic characteristics of childhood and juvenile proximal spinal muscular atrophy (SMA). The investigation involved sporadic and familial cases out in 37 families. These cases showed typical or unusual course of SMA (e.g. the pedigrees suggesting an inheritance other than autosomal recessive, coexistence of SMA with other inherited diseases, unusual patterns in EMG and muscle biopsy). All cases mapped in genetical analysis to the chromosome 5q11.2-13.3 Spino-bulbar form of SMA was excluded in families in which only males were affected. The method of carriership identification is presented.

[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy]. / Wystepowanie delecji w obrebie genu dystrofiny w dystrofii miesniowej typu Duchenne'a i Backera.

DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.

[Satellite potentials in electromyograms in patients with Duchenne progressive muscular atrophy]. / Wystepowanie potencjalów satelitarnych w elektromiogramach chorych z dystrofia miesniowa postepujaca typu Duchenne'a.

CN EMG study was performed in 30 patients with Duchenne Muscle Dystrophy. The frequency of Motor Unit Potential (MUP) with satellite components was reviewed. The amplitude and duration of individual components as well as the distance between main MUAP and satellite components were measured. The results were correlated with clinical data (duration of the disease, muscle force and wasting) and morphological (obtained from rectus femoris open biopsy). Satellite components were found in 34% of the MUP number. A positive correlation was found (p 0.001) between the duration of the complex MUP (main MUP with satellite components) and muscle force. There was no evident correlation between the morphological findings (muscle fibre regeneration and necrosis) and occurrence of satellite potentials. The diagnostic yield of satellite potentials in neuromuscular diseases in discussed.

Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy.

DNA analysis was carried out in 113 patients of 103 families. In 58 families (55%) deletions were found using different cDNA probes. The attempt of studying the correlation between mental retardation in patients and the exon deletions was made. Dystrophin was evaluated in 80 patients including 12 affected females. One girl had chromosomal translocation X;22 and was a true DMD case. An unusual pedigree typical of X-linked transmission with affected subjects showing clinical features of DMD but with normally expressed dystrophin is presented. Owing to DNA and dystrophin analysis the correct diagnosis in some doubtful cases of muscular dystrophies could be established and some unusual pedigrees detected.

Immunosuppressive treatment for juvenile myasthenia gravis.

The result of immunosuppressive treatment in 20 cases of generalized myasthenia gravis with onset before age 16 were analysed. The patients age at the beginning of immunosuppressive treatment ranged from 10 to 22 years. Thirteen patients suffered from a severe form of myasthenia gravis with respiratory attacks, the remaining 7 demonstrated a moderately severe form with bulbar symptoms dominating the clinical picture. Indication for immunosuppressive treatment was lack of or only slight improvement after thymectomy. Prednisone was used in 17 cases, high dosage of methylprednisolone in 8 (in one case twice), azathioprine in 11 and cyclophosphamide in 10. Best results were obtained with cyclophosphamide since significant improvement was recorded in 14/20 of patients. Corticosteroids, i.e. prednisone and high-dose methylprednisolone proved to be of limited value.

Unusual course of nemaline myopathy.

A boy with onset features common for a moderate form of congenital nemaline myopathy, after some years developed scapulo-humeral syndrome. Extra- and intrafusal muscle fibers overloaded with rods and indicating focal degenerative changes were seen in the first biopsy. The biopsy was later repeated and revealed an improvement in muscle architecture with a dramatically decreased number of rods. This transformation suggests that rods, as well as Z-line streaming, might be a reversible anomaly of Z-discs.

Congenital lactic acidosis in children--differential diagnosis in 44 cases.

The purpose of the study was differential diagnosis of lactic acidosis in 44 children aged from 2 weeks to 4 years. In all of them the lactate level in repeated determinations exceeded 27 mg/100 ml. From the point of view of clinical manifestations the children were divided into three groups: 26 with hepatomegaly and hypoglycaemia (I), 6 with ataxia and retardation of somatic development (II), 12 with mental retardation and muscular hypotonia (III). Together with basic biochemical studies other tests were done, if necessary, including glucose and alanine loading, lactate determination in cerebrospinal fluid, analysis of urinary organic acids by the GC-MS method, morphological examinations of muscle biopsy material, enzymatic determinations in liver biopsy material. In group I glycogenosis was suspected and its type was finally established after biochemical and enzymatic tests (types I, Ib, III, VI, VIa, XI). In one case fructose-1,6-diphosphatase deficiency was suspected. In group II the clinical manifestations resembled Leigh's syndrome. The tests demonstrated an inhibition of glucose formation from alanine, and lactate level in the cerebrospinal fluid was evidently raised above that in the serum. Gasometric index showed the presence of respiratory alkalosis with metabolic compensation rather than primary lactate acidosis. In group III, with considerable clinical variety of signs, in only nine out of 12 children the cause of lactate acidosis could have been established (pathological changes of mitochondria in 4 cases, secondary increase of lactate without pathogenetic importance in 4, and 3-hydroxy-3-methylglutaric acidosis in 1 case. In conclusion it is thought that this combination of diagnostic methods is useful in differential diagnosis of congenital lactate acidosis in children.

[Epileptic seizures in children with myasthenia gravis]. / Napady padaczkowe u dzieci z miastenia.

In the studies material of 119 children with myasthenia epileptic seizures occurred in 8 cases (7%). They always preceded the appearance of myasthenic symptoms. The seizures were primarily generalized. The EEG tracings varied greatly in morphology and intensity. The authors discuss the relationship between myasthenia and epilepsy and the effects of the used drugs on both these diseases.

[Idiopathic juvenile osteoporosis with the symptoms suggesting nervous system damage]. / Mlodziencza osteoporoza idiopatyczna z objawami sugerujacymi uszkodzenie ukladu nerwowego.

10 children with final diagnosis of idiopathic juvenile osteoporosis were admitted to the Department of Neurology because of suspected lesion of nervous system. The main clinical features were gait disturbances and pain. Radiological examination was decisive for diagnosis. The authors discuss the course of disease and effect of the treatment.

[Sensorimotor hereditary neuropathy. IV. Clinical, electrophysiologic and histologic correlations. Summary of studies]. / Ruchowo-czuciowa neuropatia dziedziczna. IV. Korelacje kliniczno-elektrofizjologiczno-histologiczne. podsumowanie badan.

On the basis of a material comprising 53 cases of sensorimotor hereditary neuropathy from 40 families the authors discuss the results of studies on the clinico-electrophysiological-histological correlations. The electrophysiological and histological studies demonstrated the validity of separation of this disease into two types according to the criteria given by Harding and Thomas. No significant differences were found in the clinical manifestations between type I and type II of the disease. In type I the clinical and histological findings were more varied than in type II. No basis was found for isolation of an intermediate type of peroneal muscular atrophy.

[Motor-sensory hereditary neuropathy. III. Histological changes]. / Ruchowo-czuciowa neuropatia dziedziczna. III. Zmiany histologiczne.

The authors describe the results of histological examinations of the sural nerve in 40 cases of sensorimotor hereditary neuropathy. A comparison of the morphological findings with the values of conduction velocity showed that all cases with "primary demyelination" belonged to the I type of this neuropathy (with conduction velocity under 38 m/sec) while those with axonal changes (and conduction velocity over 38 m/sec) belonged to type II. In 2 cases the degree of demyelination and axonal changes was similar, but the electrophysiological criteria failed to correspond to those of the "intermediate" type. These observations confirmed the validity of the classification of Harding and Thomas, but give no basis for isolation of an "intermediate" group as suggested in the classification of Bradley et al. A progression of demyelination changes was observed with increasing intensity of the pathological process, and frequent coexistence of axonal changes in type I, and possibility of greater damage to the thin myelinated fibres in relation to thick fibres in type II.

[Hereditary motor-sensory neuropathy. II. Electrophysiological studies]. / Ruchowo-czuciowa neuropatia dziedziczna. Czesc II. Zmiany elektrofizjologiczne.

Electrophysiological parameters (conduction velocity, distal latency, amplitude of evoked response) were analysed in two types of sensorimotor hereditary neuropathy isolated on the ground of the values of motor conduction velocity in the median nerve which was 38 m/sec. Using this criterion the studied material of 53 cases could be divided into two groups. Group I of 34 cases in which the mean conduction velocity in the median nerve was 16.2 m/sec, and group II of 19 cases had a mean conduction velocity in the median nerve of 50.7 m/sec. The evaluation of the degree of slowing down of conduction in both types showed similar values in individual cases and in families.

[Hereditary motor and sensory neuropathy. I. Principles of classification and clinical picture]. / Ruchowo-czuciowa neuropatia dziedziczna. I. Podstawy klasyfikacji, obraz kliniczny.

The clinical picture was analysed in two types of hereditary motor-sensory neuropathy isolated on the ground of electrophysiological criteria. Type I comprised 34 patients with the conduction velocity in median nerve below 38 m/sec. Type II 19 patients with the conduction velocity above 38 m/sec. The age of onset was similar in both types and cases with onset below the age of 5 years prevailed. The assessment of the clinical picture using a acoring system failed to show any significant differences between type I and type II. Cases of type I shows, however, a considerable variability of the clinical picture and the course of disease process. Cases of type II were more homogeneous.

Lipid storage myopathy in Kearns-Sayre syndrome.

A 7-year-old girl had external ophthalmoplegia, limb weakness, short stature, hearing loss, pigmentary degeneration of the retina, and increased CSF protein content. Muscle biopsy revealed vacuolar myopathy with accumulation of lipids. Electronmicroscopy showed abnormalities of shape, size, and internal structure of muscle mitochondria. Muscle activity of palmitoyl-CoA synthetase was decreased, and the content of lipids was increased. Serum and muscle carnitine levels were normal, as were muscle carnitine palmitoyltransferase and carnitine acetyltransferase.

[Distal myopathy]. / Miopatia odsiebna.

A family with distal myopathy with early onset of the disease and autosomal dominant inheritance is reported. In EMG examination and in the histological examination of muscle features of nervous system involvement were found besides primarily muscular lesions. The character of the pathological changes in the muscles is discussed.