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PubMed2006

Rapid-eye-movement sleep behaviour disorder and neurodegenerative diseases.

Rapid-eye-movement (REM) sleep behaviour disorder (RBD) is characterised by loss of muscular atonia and prominent motor behaviours during REM sleep. RBD can cause sleep disruption and severe injuries for the patient or bed partner. The disorder is strongly associated with neurodegenerative diseases, such as multiple-system atrophy, Parkinson's disease, dementia with Lewy bodies, and progressive supranuclear palsy. In many cases, the symptoms of RBD precede other symptoms of these neurodegenerative disorders by several years. Furthermore, several recent studies have shown that RBD is associated with abnormalities of electroencephalographic activity, cerebral blood flow, and cognitive, perceptual, and autonomic functions. RBD might be a stage in the development of neurodegenerative disorders and increased awareness of this could lead to substantial advances in knowledge of mechanisms, diagnosis, and treatment of neurodegenerative disorders.

Brain↗
PubMed1990

Botulinum A toxin injection. Failures in clinical practice and a biomechanical system for the study of toxin-induced paralysis.

Botulinum A toxin injection has great utility in the treatment of essential blepharospasm and other facial spasm disorders. Several investigators have noted the failure of botulinum toxin injections to relieve lid spasm in occasional patients and a decrease in effectiveness or duration of effect following multiple injections in other patients. We reviewed the charts of 30 consecutive patients presenting for the evaluation or treatment of facial dystonia. Of 20 patients who had received multiple injections of botulinum toxin, 10 patients were felt to be treatment failures. A new biomechanical system was developed to investigate the duration and degree of paralysis induced in the gastrocnemius muscle of the rat. Animals were treated with four sequential injections at 6-week intervals to the same muscle, resulting in muscle atrophy and an increase in the duration and degree of muscle paralysis, contrary to clinical findings in humans. The review of patient data confirms that, for many patients, repeated injection of botulinum toxin results in a decrease in duration and degree of effect despite an increased toxin dose. An opposite effect was noted in our experimental model because of progressive muscle atrophy.

Adult↗
PubMed1976

Loss of colonic haustration in progressive systemic sclerosis.

Complete loss of colonic haustration was observed in six cases of progressive systemic sclerosis. Varying degrees of haustral loss or sacculation were noted in twelve others. An increase in colonic length was characteristic and, occasionally, there was slight to moderate generalized dilatation. Correlation of these findings with the microscopic appearance of the colon showed that muscular atrophy and fibrous replacement were consistent findings, varying in degree. Although the data are insufficient to permit definite conclusions, it is suggested that these changes may be responsible for colonic lengthening and loss of haustration. Attention is drawn to the importance of not confusing this appearance with other conditions, particularly chronic ulcerative colitis.

Adult↗
PubMed2003

[Glycosaminoglycans and their fractions in patients with hereditary neuromuscular disorders].

Hereditary neuromuscular disorders (HNMD), with population incidence 1:3000, are characterized in most cases by progressive course and treatment resistance and patient's disabling. To study the involvement of the tissue-connecting structures in the pathogenesis, glycosaminoglycans and their fractions were determined in blood serum. The test group involved 40 patients with hereditary myotonia, myodystrophy, neuropathy and spinal muscular atrophy and control one consisted of 27 healthy age- and sex-matched subjects. The study was conducted using anion exchange chromatography on DEAE-cellulose. Comparing to controls, significant increase of total glycosaminoglycans and decrease of gilauronic acid fraction (p < 0.05) were found in HNMD patients, with no differences being detected between nosologic entities. Reverse correlation (r = -0.46) was revealed between patient's age and glycosaminoglycans concentration in blood serum. We concluded on intracellular and intercellular matrix heteropolyglycans metabolism dysregulation in the patients and suggested a part of HNMD pathogenesis scheme.

Adult↗
PubMed1996

[Coxarthroses].

Osteoarthritis of the hip is a frequent disease affecting 2 to 4% adults. The main symptoms are inguinal pain, hip movement limitation and thigh muscular atrophy. The diagnosis is usually made of on antero-posterior radiograph of the pelvis and Lequesne's lateral view that show joint space narrowing and osteophytosis. There is no correlation between radiographic lesions and clinical symptoms. The mean rate of joint space narrowing progression was shown to be of about 0.30 mm/year but inter-patients variations are very large. The evolution is more sever in older patients and when there is no osteophyte. New imaging techniques are necessary only if diagnosis is impossible on standard radiographs but not for the surgical decision. The treatment of hip osteoarthritis requires analgesic, NSAIDs and symptomatic slow actin drugs for osteoarthritis. Total hip arthroplasty is necessary when medical treatment is non effective on pain and disability.

Humans↗
PubMed2026

A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.

Spinal muscular atrophy with congenital bone fractures type 2 (SMABF2) is an ultra-rare neuromuscular disorder caused by pathogenic variants affecting the ASC-1 complex, most commonly ASCC1. The disorder is typically characterized by severe congenital hypotonia, prenatal or congenital fractures, and early respiratory failure. We report a girl with a novel homozygous intronic donor-site variant, c.95+5G>C, in ASCC1. In contrast to the classic SMABF2 phenotype, she had no congenital fractures and survived until 7 years of age. Her clinical presentation included generalized hypotonia, areflexia, minimal spontaneous movements, dysmorphic features related to fetal hypomobility, progressive respiratory insufficiency requiring tracheostomy and gastrostomy, and cardiac involvement. This case expands both the genetic and phenotypic spectrum of ASCC1-associated disease. The comparatively prolonged survival and absence of congenital fractures suggest that not all ASCC1 variants result in a fully loss-of-function phenotype. However, this interpretation remains hypothetical because functional RNA studies were not performed.

Humans↗
PubMed2002

[Kennedy syndrome--bulbo-spinal muscular atrophy].

Kennedy syndrome is a late-onset, bulbar-spinal type of muscular atrophy, with X-linked recessive inheritance. The characteristic features of the disease become prominent in the 4-5th decades: proximal muscle wasting and weakness, bulbar signs, fasciculations in skeletal muscles, subtle signs of endocrine dysfunction, such as gynaecomastia or testicular atrophy. The electrophysiological examinations are the keypoint to the diagnosis. Electroneurography shows normal conduction velocity in peripheral nerves, but the sensory nerves usually show axonal degeneration, which causes only very mild or subclinical neurological deficits. Electromyography shows chronic anterior horn cell degeneration in skeletal muscles. Molecular genetic diagnosis was introduced in 1991, when on abnormal expansion of CAG repeat was found in the first exon of the androgen receptor gene on chromosome X with a frequency of 100% in the affected population. Since the progression is very slow and these patients can expect a normal life span, it is essential to distinguish this syndrome from other, often more severe diseases, such as ALS. There is no proven therapy for Kennedy's disease yet. This is the first case of Kennedy's disease published in Hungary.

Adult↗
PubMed1984

Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.

Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in the first or second decade of life. In midlife, ptosis, ophthalmoplegia, dystaxia, and a nonspecific myopathy occur.

Adult↗
PubMed2005

Challenges and opportunities in clinical trials for spinal muscular atrophy.

Spinal muscular atrophy (SMA) is the most common fatal neuromuscular disease of infancy. SMA type I is the most severe and mortality is usually due to respiratory failure. In type II the disability is of later onset and less severe, and prognosis has improved primarily due to supportive care. Type III is the mildest form with onset usually of weakness in adolescence or young adulthood. SMA is an autosomal recessive disorder with deletions or mutations of the gene at the 5 q11 locus. There is no specific prevention or treatment, but current progress toward potential therapies has been substantial and several candidates including histone deacetylase (HDAC) inhibitors are under consideration for further evaluation. The authors sought to address the challenges and opportunities for testing new therapies for SMA.

Child↗
PubMed1986

Hereditary peroneal muscular atrophy in the mouse: an experimental model for congenital contractures (arthrogryposis).

A new mutant, peroneal muscular atrophy (pma) mouse in CF#1 strain has an autosomal recessively inherited equinovarus (club foot deformity) of the hind legs because of the absence of the common peroneal nerve branch of the sciatic nerve. We found the peroneal muscles were hypoplastic with histochemical and electron microscopic characteristics of fetal muscle. The anterior horn cells in the spinal cord were not reduced in number and they appeared to be normal. The density and size of the myelinated fibers in the anterior spinal roots of L3, L4, and L5 and the sciatic nerve in the affected side were not different from those in the unaffected. Therefore, the absence of the common peroneal nerve in the pma mouse is thought to result from the misdirection of these nerve bundles into other peripheral nerves. As the anomalous condition was present at birth with no progression, the pma mouse may be an experimental model for the study of arthrogryposis multiplex congenita or club foot deformity, and may lead to the understanding of the muscle and nerve interaction during development.

Animals↗
PubMed1992

Clinical variability of autosomal dominant spinal muscular atrophy.

Autosomal dominant spinal muscular atrophy (SMA) is generally classified into a juvenile and an adult onset form. Clinical data of 20 affected members out of 6 families with autosomal dominant proximal SMA are reported. Three families could largely be classified as the adult onset form (onset after 20 years of life). They showed a benign course, most of them remaining ambulatory 10-40 years after clinical onset. Intrafamilial variability of onset was small, the progression of weakness within one family appeared to be very similar. Three patients of the other 3 families suffered from the juvenile onset form (first symptoms before the age of 12 years) with walking difficulties throughout life, whereas other family members would have been classified as adult onset SMA. The latter had an onset between age 17 and 28 years, and were only moderately handicapped when last examined (aged 38-60 years). The great intrafamilial variability in at least some of the families with autosomal dominant SMA is not compatible with the distinction of two clinically defined genetic entities. This observation is important with respect to a reliable prediction in clinical practice and genetic counselling.

Adolescent↗
PubMed1999

Spinal muscular atrophy.

Spinal muscular atrophy is a common cause of disability in childhood and is characterized by weakness and wasting of voluntary muscle. It is frequently fatal. The gene for this disorder has been identified as the SMN gene and is part of a highly complex duplicated region of chromosome 5 that is subject to a high rate of gene deletion and gene conversion. The severity of muscle weakness correlates with the amount of full-length SMN protein produced. Molecular genetic studies support a model in which patients are compound heterozygotes of deleted and converted alleles that predicts a progressively decreasing amount of protein product with severity of muscle weakness. The function of SMN is beginning to be understood and it appears to be involved in ribonucleoprotein biogenesis and thus indirectly in post-transcriptional processing of mRNA. There are theoretical grounds for motor neurons having a cell-specific vulnerability to disturbances of mRNA processing and transport and these are briefly reviewed.

Animals↗
PubMed2004

Calorie restriction limits the generation but not the progression of mitochondrial abnormalities in aging skeletal muscle.

The effect of early-onset calorie restriction and aging on the accumulation of electron transport system (ETS) abnormalities was studied in rat skeletal muscle. Rectus femoris and vastus lateralis muscle fibers were analyzed for cytochrome c oxidase (COX) and succinate dehydrogenase (SDH) enzyme activities. Fibers displaying COX negative and SDH hyper reactive (COX-/SDH++) phenotype were followed through 1000-2000 micrometers to determine the frequency and length of these abnormalities as well as the physiological impact on fiber structure. Calorie restricted rats had fewer ETS abnormal muscle fibers. The mean length of ETS abnormal regions in ad libitum rat muscle fibers was similar to calorie restricted rat muscles. ETS abnormal fibers from both diet groups exhibited intra-fiber atrophy. A negative correlation between ETS abnormality length and fiber cross-sectional area (CSA) ratio was observed in both ad libitum and calorie- restricted rats. Although calorie restriction reduced the number of ETS abnormalities, it did not affect the length or associated fiber atrophy of ETS abnormal regions once the abnormality was established. Thus, calorie restriction affects the onset but not the progression of electron transport system abnormalities, thereby, limiting a process that ultimately results in fiber breakage and fiber loss.

Aging↗
PubMed1996

Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form.

We studied 50 patients with the merosin-positive form of congenital muscular dystrophy (MP-CMD) clinically and pathologically. The frequency of MP-CMD in our laboratory was approximately one-half that of the Fukuyama type and one-sixth that of Duchenne muscular dystrophy. The early signs of MP-CMD included decreased fetal movement during pregnancy (14%) and poor suck (42%), floppiness (30%), and respiratory difficulty (16%) in early infancy. Eighty-six percent of the patients had delayed motor development. Ninety-two percent of the patients followed beyond age 4 years had learned to walk. The disease was relatively slowly progressive, except in six patients who rapidly lost ambulation. Almost all patients had normal IQ, except four who were mildly to moderately retarded. Of the patients examined by cranial CT/MRI, 24% showed cerebral atrophy and 11% had areas of white matter lucency. Muscle biopsy results in those younger than 5 years showed mild dystrophic changes consisting of variation in fiber size and scattered necrotic and regenerating fibers. In older children, there were additional chronic dystrophic changes, including fiber splitting (32%), moth-eaten appearance (32%), marked fatty replacement (46%), and abnormal fiber type distribution (59%). The manifestations of MP-CMD were generally milder and more slowly progressive than those of the Fukuyama type and merosin-negative form of congenital muscular dystrophy.

Adolescent↗
PubMed2002

Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study.

We reviewed the brain MRI of 66 patients with the adult form of myotonic dystrophy type 1 (DM1) to evaluate the extent and significance of white matter involvement and to look for a pattern of MRI abnormalities suggestive of DM1. White matter lesions (WMLs) and large Virchow Robin spaces (VRSs) were rated by semiquantitative methods and the signal intensity of white matter superior and posterior to the trigones (WMPST) by reference to standard images. Disease duration was correlated positively with WML and negatively with VRS scores. Patients were divided into four groups according to increasing severity of WMPST involvement: group A with mild WMPST hyperintensity, group B with large VRSs and mild or moderate WMPST hyperintensity, group C with moderate WMPST hyperintensity or mild WMPST hyperintensity with small WMLs, group D with severe WMPST hyperintensity or moderate WMPST hyperintensity with small WMLs. Disease duration, muscular impairment, lobar WMLs and brain atrophy significantly increased from groups A and B (not significantly different) to C and from C to D, while convexity VRSs significantly decreased from group B to C and from C to D. Lobar white matter involvement in DM1 seems progressive during the disease and may be characterized initially by large VRSs or mild WMPST hyperintensity, then by small WMLs or moderate WMPST hyperintensity, and finally by more extensive and confluent WMLs or diffuse white matter hyperintensity and by brain atrophy.

Adult↗
PubMed2003

Myoclonus and neurodegenerative disease--what's in a name?

Myoclonus is a clinical symptom (or sign) defined as sudden, brief, shock-like, involuntary movements caused by muscular contractions or inhibitions. It may be classified by examination findings, etiology, or physiological characteristics. The main physiological categories for myocolonus are cortical, cortical-subcortical, subcortical, segmental, and peripheral. Neurodegenerative syndromes are potential causes of symptomatic myoclonus. Such syndromes include multiple system atrophy, corticobasal degeneration, progressive supranuclear palsy, frontotemporal dementia and parkinsonism linked to chromosome 17, Huntington's disease, dentato-rubro-pallido-luysian atrophy, Alzheimer's disease, and Parkinson's disease, and other Lewy body disorders. Each neurodegenerative syndrome can have overlapping as well as distinctive clinical neurophysiological properties. However, claims of differentiating between neurodegenerative disorders by using the presence or absence of small amplitude distal action myclonus appear unwarranted. When the myoclonus is small and repetitive, it may not be possible to distinguish it from tremor by phenotypic appearance alone. In this case, clinical neurophysiological offers an opportunity to provide greater differentiation of the phenomenon. More study of the myoclonus in neurodegenerative disease will lead to a better understanding of the processes that cause phenotypic variability among these disorders.

Humans↗
PubMedDate not supplied

[Presentation of 25 cases of post-irradiation lesions of the brachial plexus and their treatment].

A study was carried out on a series of 25 patients who were operated on for breast cancer and who submitted to postoperative radiotherapy, in which lesions of the brachial nervous plexus from ionizing radiations were obtained. In almost all the cases, 24 out of 25, various symptoms such as paresthesiae, pain, and motorial disturbances, were observed even one year after the completion of the treatment. Motorial troubles, which in 13 cases were not detected at the moment of the diagnosis of the other lesions, always occurred later. Etiopathogenesis and diagnosis of these lesions have been considered, as well as the possibility of lowering the incidence of such troubles. The conclusion can be drawn that useful results can be obtained, to a certain extent, only if therapeutic treatment is performed early: in most cases, however, the lesions showed a progressive evolution.

Brachial Plexus↗