[Electrocardiographic findings in progressive muscle atrophy in pediatrics].
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Adolescent↗
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Muscle-fiber apoptosis in neuromuscular diseases.
Muscle-fiber loss is a characteristic of many progressive neuromuscular disorders. Over the past decade, identification of a growing number of apoptosis-associated factors and events in pathological skeletal muscle provided increasing evidence that apoptotic cell-death mechanisms account significantly for muscle-fiber atrophy and loss in a wide spectrum of neuromuscular disorders. It became obvious that there is not one specific pathway for muscle fibers to undergo apoptotic degradation. In contrast, certain neuromuscular diseases seem to involve characteristic expression patterns of apoptosis-related factors and pathways. Furthermore, there are some characteristics of muscle-fiber apoptosis that rely on the muscle fiber itself as an extremely specified cell type. Multinucleated muscle fibers with successive muscle-fiber segments controlled by individual nuclei display some specifics different from apoptosis of mononucleated cells. This review focuses on the expression patterns of apoptosis-associated factors in different primary and secondary neuromuscular disorders and gives a synopsis of current knowledge.
Apoptosis↗
[Wohlfart-Kugelberg-Welander syndrome in 2 sisters affected with progressive scoliosis].
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Adolescent↗
Animal models utilized in research on muscular diseases in Japan.
A comparative study of human and animal muscular dystrophies revealed a number of differences in clinical symptoms and muscle pathology. In chicken muscular dystrophy (line 413), the white muscle was preferentially involved with striking vacuole formation in the sarcoplasm. Despite massive muscle fiber necrosis with phagocytosis which occurred in large groups in both hamsters (BIO 14.6) and mdx mouse dystrophies, the regenerating process compensated for the muscle fiber degeneration and resulted in no apparent clinical symptoms. Although the overall muscle pathology in dy mice (C57BL6J/dy+/dy+) including variation in fiber size, active fiber necrosis, interstitial fibrosis and progressive fatal course were very similar to those in human muscular dystrophy, dysmyelination at the anterior spinal roots in the mouse suggested the coexistence of neuropathic processes, which was probably involved in inducing muscle atrophy and weakness. A Japanese quail with slowly progressive muscle weakness was assumed to be a very important animal model for the adult onset type of human type II glycogenosis because there were very close morphological and biochemical similarities between the two species.
Animals↗
[Dementia and amyotrophy in Kufs disease. The adult type of neuronal ceroid lipofuscinosis].
A 26-year-old housewife, born of consanguineous parentage, began to have gait and speech disturbance. Her brother had died from suffocation because of dysphagia. At thirty-two, she developed difficulty in swallowing, clumsiness and incontinence. When she was thirty-six she had pseudobulbar palsy, vertical gaze paresis, hyperreflexia and muscular atrophy of the upper half of the body. CT scan showed cerebral atrophy. Her mental function progressively deteriorated and amyotrophic lateral sclerosis associated with dementia was suspected. She died at the age of thirty-seven. Diagnosis was made only by autopsy. There was no particular general pathologic finding excepting aspiration pneumonia. Microscopical examination revealed numerous distended neurons with accumulation of light brown pigments by Luxol fast blue/H & E stains, especially in hypothalamus, substantia nigra and nuclei of oculomotor nerves. To a lesser extent such neurons were noted ubiquitously. The stored material was mainly composed of lipofuscin and ceroid. Ultrastructurally they presented the various structures which have previously been reported, except for finger print profiles. The pigmentary deposits were shown to be immunoreactive with polyclonal antibody directed against amyloid beta-protein.
Adult↗
Elevated calmodulin levels and reduced calmodulin-stimulated calcium-ATPase in Duchenne progressive muscular dystrophy.
We determined the calmodulin concentration and Ca2+-ATPase activity in subcellular fractions recovered from samples of vastus lateralis muscle obtained from 18 patients with Duchenne muscular dystrophy, 10 patients with other primary myopathies, 5 with spinal muscular atrophy, and 16 age-matched controls. Calmodulin levels were increased in the cytosol, plasmalemma, and heavy sarcoplasmic reticulum fractions from Duchenne dystrophy patients; the greatest increases occurred at early stages of disease or in mildly progressive cases. The total Ca2+-ATPase activities were decreased in the Duchenne dystrophy muscles; calmodulin caused a minimal stimulation of the activity in calmodulin-depleted membranes from Duchenne dystrophy compared with control membranes. The changes in calmodulin concentration and Ca2+-ATPase activity complement previous observations of reduced calsequestrin and dystrophin concentrations in Duchenne dystrophy muscles and suggest that these muscles lose calcium regulatory functions at early stages of the disease process.
Adenosine Triphosphatases↗
Calf hypertrophy in spinal muscular atrophy.
Two unusual variants of spinal muscular atrophy with gross calf hypertrophy of adolescent onset were studied clinically, electrophysiologically and histologically. There have been reports of several variants within this group of spinal muscular atrophies. In Singapore we encountered 2 patients who had an unusual variant of spinal muscular atrophy not well recognised previously with only 3 reports recorded to date. Our cases presented with gross calf hypertrophy and a slowly progressive clinical course. Nerve conduction studies were normal but electromyogram and muscle biopsies revealed a chronic denervation problem of probable central origin.
Adult↗
Selective atrophy of the type IIb muscle fibers in rheumatoid arthritis and progressive systemic sclerosis (scleroderma). A biopsy histochemical study.
We have examined biopsy material from the left m. vastus lateralis of eight patients suffering from rheumatoid arthritis and four patients with progressive systemic sclerosis (scleroderma). All were chosen according to the duration and the severity of disease, so that the broadest possible spectrum of signs and symptoms could be considered. Muscular specimens showed a selective and constant atrophy of the type IIB fibers, as revealed by the myofibrillar ATPase histochemical reaction (both at a pH of 9.4 and with pre-incubation at pH 4.35 and 4.63). Atrophy of the type I fibers was seen only occasionally. Neither structural abnormalities, such as 'motheaten' fibers, nor inflammatory reactions were observed. We think that (1) changes in skeletal muscles of patients with rheumatoid arthritis and progressive systemic sclerosis may be quite selective, and (2) the myopathy associated with rheumatoid arthritis can be differentiated from inflammatory myopathies, even in muscle biopsy specimens, on the basis of histoenzymologic investigations.
Adult↗
Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.
Spinal Muscular Atrophy (SMA) is an inherited degenerative disorder of anterior horn cells that results in progressive muscle weakness and atrophy. The autosomal recessive forms of childhood-onset SMA have been mapped to chromosome 5q11.2-13.3, in a number of studies examining different populations. A total of 9 simple sequence repeat markers were genotyped against 32 Polish families with SMA. The markers span an approximately 0.7 cM region defined by the SMA flanking markers D5S435 and MAP1B. Significant linkage disequilibrium (corrected P < .05) was detected at four of these markers, with D/Dmax values of < or = .89. Extended haplotype analysis revealed a predominant haplotype associated with SMA. The apparently high mutation rate of some of the markers has resulted in a number of haplotypes that vary slightly from this predominant haplotype. The predominant haplotype and these closely related patterns represent 25% of the disease chromosomes and none of the nontransmitted parental chromosomes. This predominant haplotype is present both in patients with acute (type I) and in chronic (types II and III) forms of SMA and occurs twice in a homozygous state, both times in children with chronic SMA.
Adolescent↗
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common genetic cause of childhood mortality. The phenotype is extremely variable, and patients have been classified in type I-III SMA based on age at onset and clinical course. All three types of SMA are caused by mutations in the survival motor neuron gene (SMN1). There are two almost identical copies, SMN1 and SMN2, present on chromosome 5q13. Only homozygous absence of SMN1 is responsible for SMA, while homozygous absence of SMN2, found in about 5% of controls, has no clinical phenotype. Ninety-six percent of SMA patients display mutations in SMN1, while 4% are unlinked to 5q13. Of the 5q13-linked SMA patients, 96.4% show homozygous absence of SMN1 exons 7 and 8 or exon 7 only, whereas 3. 6% present a compound heterozygosity with a subtle mutation on one chromosome and a deletion/gene conversion on the other chromosome. Among the 23 different subtle mutations described so far, the Y272C missense mutation is the most frequent one, at 20%. Given this uniform mutation spectrum, direct molecular genetic testing is an easy and rapid analysis for most of the SMA patients. Direct testing of heterozygotes, while not trivial, is compromised by the presence of two SMN1 copies per chromosome in about 4% of individuals. The number of SMN2 copies modulates the SMA phenotype. Nevertheless, it should not be used for prediction of severity of the SMA.
Amino Acid Sequence↗
[A case of X-linked bulbospinal muscular atrophy with bilateral abductor vocal cord paralysis].
We report a 54-year-old man with X-linked bulbospinal muscular atrophy (BSMA) with bilateral abductor vocal cord paralysis. He noticed distal weakness in the lower limbs at age 20. In the following 18 years the weakness and atrophy of his leg muscles increased gradually. He has complained of stridors during respiratory tract infection and snored heavily during sleep since his age of 50. He was admitted to our hospital for the progressive stridors during meals. His two brothers were said to have similar complaints. Physical examination showed gynecomastia, hypertension and inspiratory stridor. Neurologic examination revealed distal muscular atrophy in his four extremities, especially more severe in bilateral lower limbs. Deep tendon reflexes were absent in all extremities. His tongue was slightly atrophic with fasciculation. Neurological diagnosis was made by family history, neurological findings, electromyography and a CAG repeat expansion in the androgen receptor gene. Lungs and diaphragm were normal on the chest radiograph. Cranial MRI including brain stem was also normal. Direct laryngoscopy showed a complete paralysis of both vocal cords in paramedian position. Tracheostomy was done right away; his respiratory distress showed prompt improvement after the tracheostomy. No previous report of bilateral vocal cord paralysis in BSMA has been found. Life expectancy in BSMA patients with vocal cord paralysis may be shortened because of respiratory distress or asphyxia. Of clinical importance is a careful assessment of vocal cord function in BSMA patients.
Endoscopy↗
Cervical spondylotic amyotrophy. Magnetic resonance imaging demonstration of intrinsic cord pathology.
STUDY DESIGN: Three case reports. OBJECTIVE: To elucidate the pathophysiology of cervical spondylotic amyotrophy. SUMMARY OF BACKGROUND DATA: Cervical spondylotic amyotrophy is the clinical syndrome in cervical spondylosis characterized by severe muscular atrophy in the upper extremities, with an absent or insignificant sensory deficit. Pathophysiology of this particular syndrome has not been well understood. METHODS: Three cases of cervical spondylotic amyotrophy are presented in which magnetic resonance imaging confirmed the intrinsic cord disease as the cause of the syndrome. RESULTS: The patients had segmental muscular atrophy of the proximal upper extremities, with an absent or insignificant sensory deficit. After initial disease progression, the symptoms stabilized for years. Sagittal T2-weighted magnetic resonance images showed multi-segmental linear high-signal intensity within the compressed spinal cord. These high-signal intensity lesions appeared to be located at the anterior horns on axial images. The spinal cord compression was less severe in the neck-neutral position, but spinal canal stenosis increased when the neck was extended. CONCLUSIONS: The results suggest that one pathophysiology of this syndrome may be multisegmental damage to the anterior horns caused by dynamic cord compression, possibly through circulatory insufficiency.
Aged↗
Monomelic amyotrophy with late progression.
Monomelic amyotrophy is a sporadic juvenile-onset disease that presents with gradual onset of weakness and atrophy in the hand muscles unilaterally. Generally, this disease is considered a 'benign' and non-progressive motor neuron disease, which stabilizes within five years of onset. We discuss a case that illustrates that monomelic amyotrophy may rarely exhibit late clinical progression to the lower extremities after a prolonged period of disease stability.
Age of Onset↗
[An autopsied Japanese case of hereditary olivo-ponto-cerebellar atrophy compatible with the original one of Menzel's report (1891)].
We report a patient whose clinicopathological findings are compatible with those of the case reported by Menzel in 1891. This case was briefly reported by Kinoshita et al in 1967 as hereditary ataxia of Menzel type. But the concept of this disease has been confused, especially in the early investigations for the hereditary olivo-ponto-cerebellar atrophy (OPCA) in Japan. The Kinoshita's patient should be considered as the first Japanese case whose findings are identical with Menzel's report. This report represents a precise study of the case reported by Kinoshita et al. The patient was a 42-year-old Japanese woman. Her mother and one of her brothers suffered from the same disease. She began to experience progressive ataxia at the age of 30. At age 42, she was admitted to another hospital because of inability to walk and mental deterioration. Neurological examination revealed cerebellar ataxia in the extremities and trunk, childish personality change, dementia, diminished deep tendon reflexes with extensor plantar response bilaterally, slowness and hypokinesia in the movement, generalized muscular atrophy, and sensory disturbance prominent in deep sensory. She had no involuntary movement and dysautonomia. She had no retinal degeneration, nystagmus, nor progressive nuclear oculomotor palsy. She died of pneumonia. Neuropathological findings revealed brain weight of 850g.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
[Enzyme-and immuno-histochemistry of muscle biopsies in severe infantile spinal muscular atrophy].
The basic lesions in the muscle biopsies of 11 cases of severe infantile spinal muscular atrophy showed typical neurogenic fascicular muscular atrophy. It was found through histochemistry staining that both types of muscle fibres were involved which were characterised by the presence of type grouping of the damaged fibers, anyhow, the original mosaic pattern of both types were still partially reserved. With anti-laminin immunofluorescence staining, it was demonstrated that the basal membrane of atrophied small muscle fibre was still intact. It is considered that the main manifestation of damage on spinal anterior horn neuron is denervation of the skeletal muscle; meanwhile, the function of the muscle fibre in regulations carbohydrate metabolism is not apparently obstructs. The pathologic process of this disease develops from denervation to renervation and then back to denervation again. Therefore the clinical feature of muscle atrophy in this disease is progressive and developmental.
Anterior Horn Cells↗
A family of juvenile proximal spinal muscular atrophy with dominant inheritance.
A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.
Adolescent↗
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
OBJECTIVE: To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2. BACKGROUND: SCO2 encodes a mitochondrial inner membrane protein, thought to function as a copper transporter to cytochrome c oxidase (COX), the terminal enzyme of the respiratory chain. Mutations in SCO2 have been described in patients with severe COX deficiency and early onset fatal infantile hypertrophic cardioencephalomyopathy. All patients so far reported are compound heterozygotes for a missense mutation (E140K) near the predicted CxxxC metal binding motif; however, recent functional studies of the homologous mutation in yeast failed to demonstrate an effect on respiration. METHODS: Here we present clinical, biochemical, morphologic, functional, MRI, and MRS data in two infants, and a short report in an additional patient, all carrying a homozygous G1541A transition (E140K). RESULTS: The disease onset and symptoms differed significantly from those in compound heterozygotes. MRI and muscle morphology demonstrated an age-dependent progression of disease with predominant involvement of white matter, late appearance of basal ganglia lesions, and neurogenic muscular atrophy in addition to the relatively late onset of hypertrophic cardiomyopathy. The copper uptake of cultured fibroblasts was significantly increased. CONCLUSIONS: The clinical spectrum of SCO2 deficiency includes the delayed development of hypertrophic obstructive cardiomyopathy and severe neurogenic muscular atrophy. There is increased copper uptake in patients' fibroblasts indicating that the G1541A mutation effects cellular copper metabolism.
Age of Onset↗
Brachially innervated ectopic hindlimbs in the chick embryo. I. Limb motility and motor system anatomy during the development of embryonic behavior.
The functional status of brachially innervated hindlimbs, produced by transplanting hindlimb buds of chick embryos in place of forelimb buds, was quantified by analyzing the number and temporal distribution of spontaneous limb movements. Brachially innervated hindlimbs exhibited normal motility until E10 but thereafter became significantly less active than normal limbs and the limb movements were more randomly distributed. Contrary to the findings with axolotls and frogs, functional interaction between brachial motoneurons and hindlimb muscles cannot be sustained in the chick embryo. Dysfunction is first detectable at E10 and progresses to near total immobility by E20 and is associated with joint ankylosis and muscular atrophy. Although brachially innervated hindlimbs were virtually immobile by the time of hatching (E21), they produced strong movements in response to electrical stimulation of their spinal nerves, suggesting a central rather than peripheral defect in the motor system. The extent of motoneuron death in the brachial spinal cord was not significantly altered by the substitution of the forelimb bud with the hindlimb bud, but the timing of motoneuron loss was appropriate for the lumbar rather than brachial spinal cord, indicating that the rate of motoneuron death was dictated by the limb. Measurements of nuclear area indicated that motoneuron size was normal during the motoneuron death period (E6-E10) but the nuclei of motoneurons innervating grafted hindlimbs subsequently became significantly larger than those of normal brachial motoneurons. Although the muscle mass of the grafted hindlimb at E18 was significantly less than that of the normal hindlimb (and similar to that of a normal forelimb), electronmicroscopic examination of the grafted hindlimbs and brachial spinal cords of E20 embryos revealed normal myofiber and neuromuscular junction ultrastructure and a small increase in the number of axosomatic synapses on cross-sections of motoneurons innervating grafted hindlimbs compared to motoneurons innervating normal forelimbs. The anatomical data indicate that, rather than being associated with degenerative changes, the motor system of the brachial hindlimb of late-stage embryos is intact, but inactive.
Animals↗