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At least 811 records · Page 45Linked to original sources
PubMed1989

[Pseudohypertrophic proximal progressive muscular dystrophy with a malignant course manifesting itself in adolescence].

The authors describe an unique case of progressive muscular dystrophy in four brothers T. The disease was peculiar in its debut in adolescence, localization of muscular atrophies in proximal limbs, pseudohypertrophy of various muscular groups, malignant course of the myodystrophy with concomitant endocrine and metabolic disorders. A primarily muscular nature of the disease was confirmed in electrophysiological and pathological investigation. X-linked recessive inheritance of the progressive muscular dystrophy was supposed in T family. The issues of differential diagnosis, clinical polymorphism and genetical heterogeneity of X-linked recessive progressive muscular dystrophies are discussed.

Adolescent↗
PubMed2006

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.

BACKGROUND: Mitochondrial DNA depletion syndrome is an autosomal recessive disorder characterized by decreased mitochondrial DNA copy numbers in affected tissues. It has been linked to 4 genes involved in deoxyribonucleotide triphosphate metabolism: thymidine kinase 2 (TK2), deoxyguanosine kinase (DGUOK), polymerase gamma (POLG), and SUCLA2, the gene encoding the beta-subunit of the adenosine diphosphate-forming succinyl coenzyme A synthetase ligase. OBJECTIVE: To highlight the variability in the clinical spectrum of TK2-related mitochondrial DNA depletion syndrome. DESIGN: Review of patients and the literature. SETTING: Tertiary care university. PATIENTS: Four patients with mitochondrial DNA depletion syndrome and mutations in the TK2 gene. MAIN OUTCOME MEASURES: Definition of clinical variability. RESULTS: Patient 1 had evidence of lower motoneuron disease and was initially diagnosed as having spinal muscular atrophy type 3. Patient 2, who is alive and ambulatory at age 9 years, presented at age 2 years with a slowly progressive mitochondrial myopathy. Patient 3 had a more severe myopathy, with onset in infancy and death at age 6 years of respiratory failure. Patient 4 had a rapidly progressive congenital myopathy with rigid spine syndrome and he died at age 19 months. CONCLUSION: The clinical spectrum of TK2 mutations is not limited to severe infantile myopathy with motor regression and early death but includes spinal muscular atrophy type 3-like presentation, rigid spine syndrome, and subacute myopathy without motor regression and with longer survival.

Adolescent↗
PubMed1977

[Brothers affected by the Charcot-Marie-Tooth peroneal muscular atrophy with a positive variant of the anticipation phenomenon].

Considering the genetical peculiarity of Charcot-Marie-Tooth's muscular atrophy, a family with three affected brothers was investigated, in which beginning date was discovered to be progressively antedated. Afterwards, this possible variant of anticipation is discussed, because such condition is quite ununsual, not only in this disease, but in Human Genetics, in a general sense.

Adult↗
PubMed1998

HIV rounds at Cornell: selected neurologic complications of HIV disease.

Neurological disorders are among the most frequent and devastating complications of HIV infection and AIDS. As patients survive longer with the availability of highly active anti-retrovital therapy, it is likely that the frequency of some of these disorders will increase, since patients will survive long enough to develop them. The central and peripheral nervous system may be affected by numerous primary and secondary complications. These neurological disorders include HIV dementia, primary CNS lymphoma, toxoplasmosis, progressive multifocal leukoencephalopathy, vacuolar myelopathy, peripheral neuropathies, and myopathy. In this review we discuss current thoughts on clinical features, pathogenesis, diagnostic evaluation, treatment and clinical trials in several of these HIV-associated neurologic disorders.

AIDS Dementia Complex↗
PubMed1998

AIDS-associated vacuolar myelopathy.

AIDS-associated vacuolar myelopathy (VM) is a common neurologic complication of AIDS. Pathologically, VM is characterized by vacuolization in the lateral and posterior columns of the thoracic spinal cord and has a striking similarity with the myelopathy of vitamin B12 deficiency. In autopsy series, 20% to 55% of patients with AIDS have evidence of spinal cord disease consistent with VM. The myelopathy usually manifests late in the course of HIV infection, with slowly progressive weakness of the lower extremities, gait disorder, sensory abnormalities in the legs, impotence in men, and urinary frequency and urgency. Its course is invariably progressive and leads to severe paralysis of the lower limbs, with loss of the ability to walk and of sphincter control. The differential diagnosis is extensive and includes metabolic, infective, and neoplastic spinal cord diseases. The diagnosis is based on the clinical observation and the exclusion of other causes of myelopathy via serologic, radiographic, and cerebrospinal fluid studies. The pathogenesis of VM is unknown. Attempts to detect HIV in the spinal cord have not yielded significant results, and there is no evidence of a relationship between the presence of HIV and the development of myelopathy. A metabolic disorder of the vitamin B12-dependent transmethylation pathway, induced by HIV or cytokine activation, is considered the possible cause of VM associated with AIDS. There is no known treatment for AIDS myelopathy and there is no evidence that antiretroviral drugs can improve the symptoms or slow the progression of VM. The symptomatic treatment includes antispasticity agents, management of sphincter dysfunction, and physical therapy. Experimental treatments are being tested in clinical trials.

Diagnosis, Differential↗
PubMed1993

Motor unit populations in healthy and diseased muscles.

The numbers of functioning motor units can be estimated in proximal and distal muscles of human limbs by an electrophysiological technique in which the mean sizes of the motor unit potentials are compared with the maximum M-waves of the same muscles. Although manual methods of estimation have been used successfully in the past, the introduction of automated techniques has brought considerable advantages, including greater objectivity and reduced contamination of the results by "alternation." In healthy subjects, the intrinsic muscles of the hand have approximately 100 motor units each, and the biceps brachii muscle has only slightly more. With advancing age, there is a loss of motor units, which appears to be more pronounced in distal muscles. The motor unit estimating methodology has been found to be of value in the diagnosis and assessment of patients suspected of having muscle denervation. In amyotrophic lateral sclerosis, the mean rate of motor unit loss is swift, whereas in late-onset cases of spinal muscular atrophy, the reduction in the motor unit population does not appear to progress. In only the most rapidly deteriorating cases of post-polio syndrome is it possible to demonstrate further loss of motor units. In all of these denervating disorders, and in peripheral neuropathies, the importance of collateral reinnervation as a compensatory mechanism is emphasized.

Adaptation, Physiological↗
PubMed1997

Cardiac involvement in progressive muscular dystrophy of the Duchenne type.

Duchenne's progressive muscular dystrophy (DMD) is a genetic muscle disorder that causes degeneration and atrophy of the systemic and cardiac muscle. The disease is manifested early in childhood, and most of patients die by age 20 years of respiratory failure or heart failure. The cardiac involvement in DMD is characterized pathologically by degeneration and fibrosis of the myocardium, centering around the posterolateral wall of the left ventricle. Functionally, an abnormal electrocardiogram, valve motion, wall thickness, and wall motion are observed. Furthermore, abnormalities in plasma levels of atrial natriuretic peptide and autonomic function are also demonstrated. In this review, the cardiac involvements in DMD in the following aspects are described: 1) Electrocardiogram; a) high-frequency notches on the QRS complexes, b) amplitude of QRS complexes, c) late potential, d) arrhythmias, e) heart rate variability, f) a 10-year follow-up study, 2) Echocardiographic findings, 3) Hemodynamic findings, 4) Atrial natriuretic peptide.

Arrhythmias, Cardiac↗
PubMed1983

Fatty replacement of lower paraspinal muscles: normal and neuromuscular disorders.

The physiologic replacement of the lower paraspinal muscles by fat was evaluated in 157 patients undergoing computed tomography for reasons unrelated to abnormalities of the locomotor system. Five patients with neuromuscular disorders were similarly evaluated. The changes were graded according to severity at three spinal levels: lower thoracic-upper lumbar, midlumbar, and lumbosacral. The results were analyzed in relation to age and gender. It was found that fatty replacement of paraspinal muscles is a normal age-progressive phenomenon most prominent in females. It progresses down the spine, being most advanced in the lumbosacral region. The severest changes in the five patients with neuromuscular disorders (three with poliomyelitis and two with progressive muscular dystrophy) consisted of complete muscle group replacement by fat. In postpoliomyelitis atrophy, the distribution was typically asymmetric and sometimes lacked clinical correlation. In muscular dystrophy, fatty replacement was symmetric, showing relative sparing of the psoas and multifidus muscles. In patients with neuromuscular diseases, computed tomography of muscles may be helpful in planning a better rehabilitation regimen.

Adipose Tissue↗
PubMed2001

[Kennedy disease in a patient with progressive speech disorder].

Kennedy disease is an adult onset neuromuscular disease characterized by slowly progressive proximal and bulbar muscle weakness. The disease associates with gynecomastia, adult onset infertility and sensory neuropathy, and caused by pathologic expansion of CAG repeats at the N-terminal region of the androgen-receptor gene at Xq11-q12. We report on a patient presenting with slowly progressive muscle weakness of the lower extremities, progressive dysartry and swallowing difficulties. The clinical symptoms were not fully specific for the disease. Moreover the family history was suggestive for an autosomal dominant trait meaning a diagnostic pitfall at the original examination. Finally the firm diagnosis of the Kennedy disease was established by a polimerase chain reaction based method.

Adult↗
PubMed1996

A novel nuclear structure containing the survival of motor neurons protein.

Spinal muscular atrophy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. A gene termed survival of motor neurons (SMN), at 5q13, has been identified as the determining gene of SMA (Lefebvre et al., 1995). The SMN gene is deleted in > 98% of SMA patients, but the function of the SMN protein is unknown. In searching for hnRNP-interacting proteins we found that SMN interacts with the RGG box region of hnRNP U, with itself, with fibrillarin and with several novel proteins. We have produced monoclonal antibodies to the SMN protein, and we report here on its striking cellular localization pattern. Immunolocalization studies using SMN monoclonal antibodies show several intense dots in HeLa cell nuclei. These structures are similar in number (2-6) and size (0.1-1.0 micron) to coiled bodies, and frequently are found near or associated with coiled bodies. We term these prominent nuclear structures gems, for Gemini of coiled bodies.

3T3 Cells↗
PubMedDate not supplied

Animal models of ALS.

Animal models of amyotrophic lateral sclerosis (ALS) provide a unique opportunity to study this incurable and fatal human disease both clinically and pathologically. This is particularly true for certain pathological and therapeutic studies that are impractical or impossible to perform in human patients. Nonetheless, postmortem ALS tissue remains the "gold standard" against which pathologic findings in animal models must be compared. Four natural disease models have been most extensively studied, including three mouse models: motor neuron degeneration (Mnd), progressive motor neuronopathy (pmn), wobbler, and one canine model: hereditary canine spinal muscular atrophy (HCSMA). The wobbler mouse has been the most extensively studied of these models with analyses of clinical, pathological (perikaryon, axon, muscle), and biochemical features. Experimentally induced ALS animal models have allowed controlled testing of various neurotoxic, viral and immune-mediated mechanisms. Molecular techniques have recently generated mouse models in which genes relevant to the human disease or motor neuron biology have been manipulated. The most clinically relevant of these is a transgenic mouse overexpressing the mutated SOD1 gene of FALS patients, which has already provided significant insights into mechanisms of motor neuron degeneration in this disease. Because no single animal model perfectly reflects all the clinical and pathological characteristics of ALS, study of selected features from the most relevant models will contribute to a better understanding of the pathogenesis and/or etiology of this disease.

Amyotrophic Lateral Sclerosis↗
PubMed1991

[Congenital facioscapulohumeral muscular dystrophy associated with tongue atrophy and sensorineural hearing disturbance].

An 18-year-old high-school boy presented facial muscle weakness since birth, and then developed wasting around the neck, shoulder girdle, upper arms, and thighs. He was born to un-consanguineous parents. His father had suffered from similar but milder muscle atrophy with predominance on the right side of the face and shoulder girdle since adolescence. His mother and his only sibling were clinically unaffected. Hearing disturbance was detected at the age of 6, and he also noted atrophy of the tongue and the bilateral thighs at the age of 10. The symptom progressed gradually. Neurological examination on admission revealed a well-developed boy (166 cm/60 kg) with a prominent facial diplegia with distinct proximal muscular atrophy of the extremities. Muscles of the tongue, neck, upper arms, shoulder and pelvic girdles, and hamstrings were markedly involved. The anterior tibial muscles were also affected, while the calf muscles were hypertrophic. High arched palate, X legs, mild lordoscoliosis were also noted. Serum CK was slightly increased (424 IU/l), and needle EMG in the extremities including the tongue revealed myopathic changes. Muscle CT demonstrated marked atrophy of the proximal muscles in the lower limbs and hypertrophy of the calf muscles. Audiogram showed bilateral sensorineural hearing disturbance. Muscle biopsy of the gastrocnemius showed myogenic as well as neurogenic changes consisting of atrophic and hypertrophic fibers with interstitial cellular infiltration, and type I fiber predominance. With these family history as well as clinical and laboratory examinations, this case could be diagnosed as "congenital facioscapulohumeral muscular dystrophy".(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

[Post-polio syndrome. A case report].

Certain acute anterior poliomyelitis survivors express complaints of abnormal fatigue, weakness and muscular atrophy many years after acute onset. These are basic clinical symptoms of so-called post-polio syndrome (PPS). PPS is characterized by a relatively slow, but progressive pathological muscular process, in some cases leading to functional impairment of daily living and professional activity. Breathing, speaking and swallowing impairment are common but not severe medical problems of post-polio patients. Diagnosis is usually based on a typical medical history, electromyographic investigation and exclusion of other diseases presenting similar features. We report a case of PPS in a 49-year-old woman diagnosed in the Neurological Department in Zabrze. Thirty six years after acute anterior poliomyelitis with partial recovery, new symptoms of fatigue, muscular atrophy, exertional dyspnea, walking impairment and joint pain developed. Electromyography revealed features of coexisting spinal denervation and reinnervation in tested muscles. The differential diagnosis excluded other neuromuscular diseases. The patient fulfilled clinical and electromyographic criteria of PPS.

Dyspnea↗