[A case of Seitelberger's neuroaxonal dystrophy, diagnosed during life].
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Cerebral Cortex↗
Biomedical subjects
B Badurska
Publications and source records attributed to B Badurska.
[Analysis of families with Steinert's myotonic dystrophy].
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Adolescent↗
[Giant-axon polyneuropathy (case report)].
In a girl aged 8 years with clinical manifestations of polyneuropathy histological examination of the sural nerve demonstrated segmental distension of axons. The characteristic appearance of her hair, signs of peripheral nervous system damage and morphological findings in the sural nerve made possible the diagnosis of giant-axon polyneuropathy.
Arm↗
[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy].
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.
Chromosomes, Human, Pair 21↗
[Satellite potentials in electromyograms in patients with Duchenne progressive muscular atrophy].
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.
Child↗
[Detection of dystrophin gene mutation carrier state].
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.
Dystrophin↗
[Hereditary sensorimotor neuropathy in electrophysiological studies].
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.
Adult↗