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PubMed1980

Juvenile muscular atrophy localized to arms.

Twenty-four patients from India, had juvenile muscular atrophy localized to the upper extremities. The condition characteristically affects young men and is not familial. Atrophy is limited to the hand and forearm muscles, with slow progression for two to three years after which it seems to be stationary. The condition is associated with "tremor-like" movements out of proportion to the weakness. Examination of muscle biopsy specimens shows group 2 fiber atrophy. This syndrome, for which no cause has been described, is benign and self-limiting, unlike most motor neuron diseases, and is distal in upper extremities, unlike Kugelberg-Welander disease. Asymmetrical muscle wasting and preceding febrile illness in some patients suggests an atypical poliomyelitis-like viral disease.

Adolescent↗
PubMed2001

The meniscus: review of basic principles with application to surgery and rehabilitation.

OBJECTIVE: To review basic meniscal anatomy, histology, and biomechanical principles as they apply to surgery and rehabilitation. DATA SOURCES: We searched MEDLINE and CINAHL for the years 1960-1999 using the terms meniscus,surgery,rehabilitation,meniscal repair, and arthroscopy. DATA SYNTHESIS: Injuries to a healthy meniscus are usually produced by a compressive force coupled with transverse-plane tibiofemoral rotation as the knee moves from flexion to extension during rapid cutting or pivoting. The goal of meniscal surgery is to restore a functional meniscus to prevent the development of degenerative osteoarthritis in the involved knee. The goal of rehabilitation is to restore patient function based on individual needs, considering the type of surgical procedure, which meniscus was repaired, the presence of coexisting knee pathology (particularly ligamentous laxity or articular cartilage degeneration), the type of meniscal tear, the patient's age, preoperative knee status (including time between injury and surgery), decreased range of motion or strength, and the patient's athletic expectations and motivations. Progressive weight bearing and joint stress are necessary to enhance the functionality of the meniscal repair; however, excessive shear forces may be disruptive. Prolonged knee immobilization after surgery can result in the rapid development of muscular atrophy and greater delays in functional recovery. CONCLUSIONS/RECOMMENDATIONS: Accelerated joint mobility and weight-bearing components of rehabilitation protocols represent the confidence placed in innovative surgical fixation methods. After wound healing, an aquatic therapy environment may be ideal during all phases of rehabilitation after meniscal surgery (regardless of the exact procedure), providing the advantages of controlled weight bearing and mobility progressions. Well-designed, controlled, longitudinal outcome studies for patients who have undergone meniscectomy, meniscal repair, or meniscal reconstruction are lacking.

Journal Article↗
PubMed1996

Benign monomelic amyotrophies of upper and lower limb are not associated to deletions of survival motor neuron gene.

Benign monomelic amyotrophies (BMAs) are rare conditions in which neurogenic atrophy is restricted either to the upper or lower limb. BMAs are usually sporadic, have insidious onset and slow progression followed by stabilization, are clinically confined for many years to a single limb and lack of sensory, bulbar, and pyramidal signs. Although the aetiology and pathogenesis of BMAs are unknown they are considered variants of spinal muscular atrophy with focal emphasis and a benign course. We studied 7 patients with BMAs to investigate whether they present alterations of the survival motor neuron gene (SMN) which has been found deleted or disrupted in proximal spinal muscular atrophy. All 7 patients showed the presence of both exon 7 and 8 of SMN gene. These findings indicate that deletions at the SMN locus are not present in BMA of upper and lower limb and suggest that these disorders are not only clinically but also genetically separate entities from proximal spinal muscular atrophies.

Adult↗
PubMed1978

Muscle transketolase in normal foetuses and Duchenne dystrophy.

The activity of the enzyme transketolase (EC 2.2.1.1) or the pentose phosphate metabolizing enzyme (PPME) was investigated in the quadriceps muscles of patients with Duchenne muscular dystrophy (DMD), polymyositis and spinal muscular atrophy (SMA) and in normal foetuses. The enzyme activity was significantly elevated in these muscle disorders with highest and lowest levels seen in DMD and SMA groups, respectively. The enzyme activity was increased early in DMD muscle and appeared to increase with progression of the disease. Normal foetal muscle contained high transketolase activity which is comparable to that seen in DMD patients.

Adolescent↗
PubMed1999

[An elderly case of juvenile muscular atrophy in the unilateral upper extremity with tremor in both hands].

A 75-year-old man had noticed muscle atrophy and weakness of his right hand and forearm at the age of 25. The symptoms slowly progressed and then stopped. Right hand tremor appeared at about age 40. There was no symptom in his left upper extremity, and his gait was normal. He now shows severe muscle atrophy in his right hand and forearm. There was distally dominant weakness of the right upper extremity and his hand grip was 0 kg on the right and 25 kg on the left. On admission there was no weakness in the bilateral lower extremities. He had postural tremor in both hands and fingers. The tendon reflexes were hypoactive in the upper extremities and normal in the lower extremities. Abnormalities in the superficial sensation were unremarkable, whereas vibration sensation in both the upper and lower extremities was mildly disturbed. Electromyography revealed chronic denervation, especially in the right upper extremity. The sensory nerve conduction study results and somatosensory evoked potentials in the upper extremities were normal. Cervical MRI demonstrated spondylotic changes, canal stenosis from the C5 to C7 levels, and compression of the spinal cord. His hand tremor was dominant on the right with a peak frequency of about 7 Hz. Tremor frequency and power were decreased by mechanical load. Hirayama's disease (juvenile muscular atrophy of unilateral upper extremity) was the most probable diagnosis, although aging might have produced various additional abnormalities. The tremor seen in this patient showed characteristics of enhanced physiological tremor.

Aged↗
PubMed1987

Promotion of ambulation of patients with spinal muscular atrophy by early fitting of knee-ankle-foot orthoses.

Seven children with spinal muscular atrophy aged between 20 months and four years, none of whom had ever walked, were fitted with knee-ankle-foot orthoses. All the children could sit unsupported and therefore were at point 9 on the Vignos functional scale. Two children achieved autonomous walking, three assisted walking and the remaining two could stand without aid. During the follow-up period there was no progression of weakness and neither scoliosis nor contractures developed.

Braces↗
PubMed1986

Progressive muscular dystrophy in a golden retriever dog: light microscope and ultrastructural features at 4 and 8 months.

The clinical and morphological features of a congenital myopathy in a young male golden retriever dog were studied. Muscle biopsies at 4 and 8 months of age were examined with light and electron microscopy. Clinical features included early onset of generalized muscle weakness with selective muscle atrophy and hypertrophy, splaying of the limbs, stiff gait, and marked elevation of serum creatine kinase (CK). An electromyograph revealed spontaneous electrical activity characterized by sustained high-frequency activity, which was not abolished by neuromuscular blockade. Morphologically there was marked hypercontraction and segmental necrosis of muscle fibers with phagocytosis and regeneration. Ultrastructurally, dilatation of sarcoplasmic reticulum was the most consistent feature associated with early fiber degeneration. No abnormalities were noted in the central or peripheral nervous system. Progression of the disease was evident at 8 months. It was concluded that the findings are consistent with a dystrophic process of primary muscle origin. The probable genetics and comparison to other animal models of muscular dystrophy and to Duchenne dystrophy are discussed.

Animals↗
PubMed2006

Joint and skeletal deformities in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy.

The objective of this study is to characterize clinical features of joint and skeletal deformities in Parkinson's disease (PD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). Clinical information including age, gender, presence of deformity, initial symptom side, neuropsychological and motor features, family history, and treatment with levodopa/dopamine agonists was collected on consecutive patients with PD, MSA, and PSP evaluated at the Movement Disorders Clinic at Baylor College of Medicine. In this series of 202 patients, 36.1% had deformities of the limbs, neck, or trunk, including 33.5% of PD, 68.4% of MSA, and 26.3% of PSP patients. "Striatal" hand and foot deformities were present in 13.4%, involuntary trunk flexion in 12.9%, anterocollis in 9.4%, and scoliosis in 8.4% of all patients. Patients with these joint and skeletal deformities had higher mean Unified Parkinson's Disease Rating Scale scores (57.4 vs. 46.6; P < 0.01) and were more often treated with levodopa (69.9% vs. 50.4%; P < 0.01) than patients without deformity, independent of disease duration. Patients with striatal deformity were younger than patients without deformity (mean 60.4 vs. 68.6 years; P < 0.01), and they tended to have an earlier age of onset of initial parkinsonian symptoms (mean 54.7 vs. 62.5 years; P < 0.01). Furthermore, the side of striatal deformity correlated with the side of initial parkinsonian symptoms in all patients (100%) with striatal hand and in 83.3% of patients with striatal foot. Joint and skeletal deformities are common and frequently under-recognized features of PD, MSA, and PSP that often cause marked functional disability independent of other motor symptoms.

Female↗
PubMed1997

Genetic regulation of slowly progressing mild muscle atrophy in fast-twitch muscles of BUF/Mna rats.

BUF/Mna strain rats spontaneously develop slowly progressing mild-moderate muscle atrophy of extensor digitorum longus, tibialis, and extraocular muscles, which consist mainly of fast-twitch type fibers, at nearly 100% incidence. They have lighter extensor digitorum longus muscles than soleus muscles, when alive for more than 6 weeks. Genetic segregation of the development of the muscle atrophy was studied by crossing the BUF/ Mna strain with three other strains, ACI/NMs, WKY/NCrj, and BDIX, which were free of muscle atrophy. Two autosomal dominant susceptible genes, Mas-1 and Mas-2, determine the development of the muscle atrophy in these combinations of crosses.

Animals↗
PubMed1978

Juvenile type of distal and segmental muscular atrophy of upper extremities.

Seventy-one cases of distal and segmental muscular atrophy of the upper extremities with juvenile onset were studied. The clinical features consisted of: juvenile onset, male preponderance, unique distribution of the muscular atrophy in the hand and forearm, tendon reflexes hypoactive in most cases but hyperactive in some, no definite sensory disturbances, no involvement of the cranial nerves, and autonomic nerve disorders in the affected region. There was rapid progression during the 2 to 3 years after onset with a slowly progressive course thereafter. There were no abnormal laboratory findings except for electrophysiological and morphological findings of the affected muscles. The site of lesion was surmised to be from the C5 to T1 spinal segments with intramedullary involvement. The cause is unknown.

Adolescent↗
PubMed2006

Rehabilitation following hip arthroscopy.

The management of hip injuries has evolved significantly in recent years with the advancement of arthroscopic techniques. These recent surgical advances require establishment of rehabilitation protocols that follow several basic principles including (1) consideration of soft-tissue healing constraints, (2) control of swelling and pain to limit muscular inhibition and atrophy, (3) early range of motion, (4) limitations of weight bearing, (5) early initiation of muscle activity and neuromuscular control, (6) progressive lower extremity strengthening and proprioceptive retraining, (7) cardiovascular training, and (8) sport-specific training. The following protocols should not be considered a cookbook approach to rehabilitation, rather guidelines that are used to achieve consistent outcomes. These guidelines will continue to evolve as we learn more about the hip joint and surrounding musculature.

Arthroscopy↗
PubMed1999

Carrell-Krusen Symposium invited lecture. Clinical trials in motor neuron diseases.

Although there is no truly effective disease-specific therapy for any of the motor neuron diseases, rapid progress in our understanding of the pathophysiology of some of these disorders is being made. In addition to progress in neuroscience, clinical trials of agents that appear to slow the progress of at least one of these diseases, amyotrophic lateral sclerosis, are beginning to show promising results. The first clinical trials in spinal muscular atrophy are currently underway. A number of other developments have raised the quality of clinical trials, which should improve their productivity and efficiency in the future.

Acetates↗
PubMed1997

The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.

In the past few years, a new type of genetic mutation, expansion of trinucleotide repeats, has been shown to cause neurologic disease. This new class of mutations was first identified in 1991 as the underlying genetic defect in spinal and bulbar muscular atrophy and the fragile X syndrome, and in recent years, trinucleotide repeat expansions have been found to be the causative mechanism in 10 other neurologic diseases. These mutations are produced by heritable unstable DNA and are termed "dynamic mutations" because of changes in the number of repeat units inherited from generation to generation. In the normal population, these repeat units, although polymorphic, are stably inherited. To date four types of trinucleotide repeat expansions have been identified: (1) long cytosine-guanine-guanine (CGG) repeats in the two fragile X syndromes (FRAXA and FRAXE), (2) long cytosine-thymine-guanine (CTG) repeat expansions in myotonic dystrophy, (3) long guanine-adenine-adenine repeat expansions in Friedreich's ataxia and (4) short cytosine-adenine-guanine repeat expansions (CAG) which are implicated in eight neurodegenerative disorders and are the focus of this review. Diseases that are caused by trinucleotide repeat expansions exhibit a phenomenon called anticipation that can not be explained by conventional Mendelian genetics. Anticipation is defined as increase in the severity of disease with an earlier age of onset of symptoms in successive generations. Anticipation is often influenced by the sex of the transmitting parent, and for most CAG repeat disorders, the disease is more severe when paternally transmitted. The severity and the age of onset of the disease have been correlated with the size of the repeats on mutant alleles, with the age of onset being inversely correlated with the size of the expansion. In all eight disorders caused by CAG repeat expansion, the repeat is located within the coding region of the gene involved and in all cases it is translated into a stretch of polyglutamines in the respective proteins. All the proteins are unrelated outside of the polyglutamine stretch and most are novel with exception of the androgen receptor and the voltage gated alpha 1A calcium channel, which are mutated in spinal and bulbar muscular atrophy and spinocerebellar ataxia type 6. It is intriguing that the proteins are ubiquitously expressed in both peripheral and nervous tissue but in each disorder only a select population of nerve cells are targeted for degeneration as a consequence of the expanded CAG repeat. Current thinking among scientists working on the molecular mechanisms of neurodegeneration in these diseases is that the presence of an expanded polyglutamine confers a gain of function onto the involved protein. To understand the mechanisms underlying the pathogenesis of these diseases, investigators have turned to generating transgenic mice which recapitulate some of the features of the human disease and hence are excellent model systems to study the progression of the disease in vivo.

Animals↗
PubMed1990

[A case of flexion myelopathy presenting juvenile segmental muscular atrophy of upper extremities--a successful treatment by cervical spine immobilization].

A 24-year-old man was well until 1982, when he noticed weakness and atrophy of right arm especially those of biceps muscles. These symptoms did not progress until 1988. In 1988 weakness of left elbow flexion appeared and he was admitted to our hospital. On examination, he had weakness and atrophy of both upper extremities. Fasciculation was noticed in the proximal part of right arm. When his head was bent forward, dysesthesia appeared around radial side of his arm. There were no long tract sign or objective sensory loss. EMG showed neurogenic change over both his upper extremities. In plain cervical roentgenogram there existed abnormal kyphosis of cervical vertebrae. In MRI imaged with his neck flexed, cervical cord was compressed by the posterior surface of 4th cervical vertebral body, which corresponded to the top of cervical kyphosis. Based on these signs and examinations, a diagnosis of flexion myelopathy was made. Spinal immobilization by wiring and bone graft implantation ranging from C2 to C6 was performed to limit the range of anterior nuchal flexion. After this operation, improvement of muscle strength along with the disappearance of dysesthesia on neck flexion was observed. Clinically, this case closely resembles to juvenile type of distal and segmental muscular atrophy of upper extremities (Hirayama type). From our study, pathomechanism of this case seems to be a flexion myelopathy at C4 level. This view is supported also by the good recovery after the operation. This case suggests that nonprogressive atrophy of upper extremities due to flexion myelopathy can be successfully treated by cervical spine immobilization.

Adult↗
PubMed2006

Bone marrow transplantation attenuates the myopathic phenotype of a muscular mouse model of spinal muscular atrophy.

Bone marrow (BM) transplantation was performed on a muscular mouse model of spinal muscular atrophy that had been created by mutating the survival of motor neuron gene (Smn) in myofibers only. This model is characterized by a severe myopathy and progressive loss of muscle fibers leading to paralysis. Transplantation of wild-type BM cells following irradiation at a low dose (6 Gy) improved motor capacity (+85%). This correlated with a normalization of myofiber number associated with a higher number of regenerating myofibers (1.6-fold increase) and an activation of CD34 and Pax7 satellite cells. However, BM cells had a very limited capacity to replace or fuse to mutant myofibers (2%). These data suggest that BM transplantation was able to attenuate the myopathic phenotype through an improvement of skeletal muscle regeneration of recipient mutant mice, a process likely mediated by a biological activity of BM-derived cells. This hypothesis was further supported by the capacity of muscle protein extracts from transplanted mutant mice to promote myoblast proliferation in vitro (1.6-fold increase). In addition, a tremendous upregulation of hepatocyte growth factor (HGF), which activates quiescent satellite cells, was found in skeletal muscle of transplanted mutants compared with nontransplanted mutants. Eventually, thanks to the Cre-loxP system, we show that BM-derived muscle cells were strong candidates harboring this biological activity. Taken together, our data suggest that a biological activity is likely involved in muscle regeneration improvement mediated by BM transplantation. HGF may represent an attractive paracrine mechanism to support this activity.

Animals↗
PubMed1987

[Dominant autosomal humeroperoneal syndrome with early contractures and cardiomyopathy (Emery-Dreifuss syndrome)].

At least seven members of a family coming from southern Germany (Franconia) have manifested Emery-Dreifuss syndrome within four generations. This syndrome is characterized by slowly progressing atrophic pareses, generally in a humeroperoneal distribution, premature joint contracture, and cardiomyopathy with reduction of functional capacity. Up to now four members of this family have died from cardiac causes between the age of 39 and 46 years. Three family members have now been thoroughly examined; they showed typical muscular atrophies and contractures. The two older patients were diagnosed as having a cardiomyopathy with a complete atrioventricular block and ventricular tachycardia. Electromyographic and histological findings indicate a primary neurogenic process. Regular cardiological examinations combined with effective therapy (for example, implantation of a cardiac pacemaker and treatment with antiarrhythmic drugs) will be necessary in treating the serious arrhythmias. Progressive myocardial insufficiency required heart transplantation in one of our patients, which was successfully performed. Macroscopic and microscopic examination of the explanted heart showed a dilatative cardiomyopathy with hypertrophy and dilatation of both atria and ventricles, differences in the diameters of individual heart muscle cells, and a predominately focal interstitial fibrosis.

Adolescent↗