Cases reported "Muscular Diseases"

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1/208. An unusual manifestation of diabetes mellitus.

    MEDICAL history: Type 2 diabetes mellitus for five years; unexplained 35-lb weight loss three years ago; Bell's palsy on right side many years ago. MEDICATIONS: glipizide, 10 mg/day. family history: Father died of leukemia at age 65; mother has kidney stones; no diabetes or neuromuscular disease. SOCIAL history: insurance salesman; heterosexual, promiscuous, uses condoms; smokes (25 pack years); does not drink. physical examination: Well-nourished, well developed, not in acute distress; had difficulty rising from a sitting position because of right lower extremity weakness. blood pressure, 154/74; pulse, 88; temperature, 36.6 degrees C; respiratory rate, 16. head, eyes, ears, nose, and throat: normal. neck: normal. Heart: S4. Lungs: clear. abdomen: mildly obese. extremities: no cyanosis, clubbing, or edema; atrophy and weakness of right thigh and both calves; wide-based gait; able to walk on toes but not heels. Neurologic responses: cranial nerves intact; deep tendon reflexes, 1 symmetrically; plantar reflexes, flexor bilaterally. skin: macular rash in sun-exposed areas. LABORATORY FINDINGS: Hemoglobin, 13.2 gm/dL; mean corpuscular volume, 80 micron 3; white blood cell count, 7,200/mm3 (normal differential); platelet count, 137,000/mm3. serum: electrolytes, normal; blood urea nitrogen, 18 mg/dL; creatinine, 0.8 mg/dL; glucose, 308 mg/dL; total protein, albumin, liver enzymes, and creatine kinase, normal. urine: 1 glucose. Venereal disease test: nonreactive; hiv test: negative. DIFFERENTIAL DIAGNOSIS: dermatomyositis; heavy-metal poisoning; diabetic amyotrophy. HOSPITAL COURSE: The patient was given 50 mg/day of oral amitriptyline to alleviate the painful paresthesias and was switched to 20 U/day of subcutaneously injected neutral protamine Hagedorn (NPH) insulin to normalize the blood glucose level. Histologic studies of skin and muscle showed sun damage and neuropathic changes, respectively. There was no evidence of vasculitis. Screening for heavy-metal toxins produced negative results.
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2/208. Muscle function in a patient with Brody's disease.

    Adductor pollicis muscle function of a 21-year-old man with genetically confirmed Brody's disease (sarcoplasmic reticulum [SR] -Ca2 ATPase deficiency) was investigated to study the possible effects of reduced SR-Ca2 ATPase activity on muscle relaxation and force production. Following maximal electrical activation of the ulnar nerve, tetanic muscle half-relaxation time was greater in the patient (246 /- 10 ms) than control subjects (97 /- 4 ms, n = 8). During repetitive activation, there was a similar decline in maximal shortening velocity in the patient and controls, indicating a comparable reduction in cross-bridge cycling rate. The finding that the slowing of relaxation was greater in the patient (329 ms versus 138 /- 20 ms) suggests that there was a further reduction of SR-Ca2 ATPase activity in the patient's muscle during fatigue. Following a voluntary contraction, involuntary activity of the antagonist muscles facilitated force decline and masked the impaired relaxation in the patient. This antagonist-induced relaxation indicates that it might be difficult to establish impaired muscle relaxation with voluntary contractions.
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3/208. Familial skeletal myopathy with atrioventricular block.

    OBJECTIVE: We studied familial cases of skeletal myopathy with atrial fibrillation (Af) and atrioventricular (AV) block to compare the clinical features to other myopathies associated with cardiac abnormalities. methods: Neurologic, cardiologic, electrophysiologic, muscle pathology, and genetic studies were performed on the patients showing muscle weakness. patients: Four patients (a 63-year-old mother, 30 and 32-year-old sisters, and their maternal grandmother) and three healthy family members from three generations were studied. The mode of inheritance was suspected as autosomal dominant. RESULTS: Two sisters with congenital myopathy without rigid spine developed Af and AV block at the age of 28 and 18, respectively. The mother showed AV block, and underwent pacemaker implantation at the age of 63. The maternal grandmother had dilated cardiomyopathy, Af and severe lordosis. She died of stroke attacks and congestive heart failure at the age of 78. Muscle biopsy obtained from the mother and sisters showed myopathic changes without characteristic abnormalities. No mitochondrial DNA mutations were found. Other inherited myopathies with cardiac complications were not suspected in this family. CONCLUSION: This Japanese family appears to belong to a new genetically heterogeneous group of autosomal dominant skeletal myopathy with severe AV block and Af.
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ranking = 1.3146235479081
keywords = block
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4/208. Continuous bilateral electrophrenic pacing in an infant with total diaphragmatic paralysis.

    An infant with bilateral diaphragmatic paralysis, etiology undetermined, is presented in whom bilateral intrathoracic phrenic nerve pacemakers were inserted. He was maintained with continuous bilateral electrophrenic pacing for 142 days. A review of the literature by the authors has not revealed any previously reported cases.
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5/208. Diaphragmatic cramp as a possible cause of noncardiac chest pain and referred mandibular pain.

    The initial assumption that sudden acute chest pain may be of cardiac origin is justifiable, but when this proves not to be the case the patient is left with little explanation of the cause. It is suggested here that diaphragmatic cramp may be a cause of some undiagnosed noncardiac chest pains associated with mandibular referred pain. The phrenic nerve provides both motor and sensory innervation to the diaphragm, while the trigeminal nerve carries sensation from the mandibular teeth. Both nerves originate in separate nuclei close together in the lower medulla. Interconnections between these nuclei and others higher up in the brain may provide one explanation for this problem.
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6/208. Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.

    desmin myopathy is a familial or sporadic disorder characterized by intracytoplasmic accumulation of desmin in the muscle cells. We and others have previously identified desmin gene mutations in patients with familial myopathy, but close to 45% of the patients do not report previous family history of the disease. The present study was conducted to determine the cause of desmin myopathy in a sporadic patient presenting with symmetrical muscle weakness and atrophy combined with atrioventricular conduction block requiring a permanent pacemaker. A novel heterozygous R406W mutation in the desmin gene was identified by sequencing cDNA and genomic DNA. Expression of a construct containing the patient's mutant desmin cDNA in SW13 (vim-) cells demonstrated a high pathogenic potential of the R406W mutation. This mutation was not found in the patient's father, mother or sister by sequencing and restriction analysis. Testing with five microsatellite markers and four intragenic single nucleotide polymorphisms excluded alternative paternity. Haplotype analysis indicates that the patient's father was germ-line mosaic for the desmin mutation. We conclude that de novo mutations in the desmin gene may be the cause of sporadic forms of desmin-related cardiac and skeletal myopathy.
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ranking = 0.16432794348851
keywords = block
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7/208. Type II neurofibromatosis presenting as quadriceps atrophy.

    A young woman aged 26 years presented with atrophy of the left quadriceps progressing over one year. magnetic resonance imaging (MRI) showed a large lesion of the lumbar plexus compatible with neurinoma. Cerebral MRI revealed a lesion in the right eighth cranial nerve also compatible with neurinoma. On further questioning of the patient, it was learned that her mother had undergone surgery twice for acoustic neurinoma. Type II neurofibromatosis was diagnosed from the basis of clinical picture, neuroimaging findings and family history. This case is unusual for the lack of central nervous system (CNS) symptoms. Expansive radicular lesions compatible with neurinoma should prompt cerebral MRI. Regular examination of family members at risk and early diagnosis can decrease the high mortality associated with this condition.
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keywords = nerve
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8/208. Ulnar neuropathy resulting from diffuse intramuscular hemorrhage: a case report.

    The ulnar nerve can be injured in the arm, forearm, and wrist. This report describes a 79-year-old woman who presented to the emergency department with acute lower extremity weakness and vertigo. Her medical history was significant for moderate to severe aortic stenosis, hypertension, and a remote intravascular thrombosis in the right forearm. The patient was diagnosed with a transient ischemic attack and was treated with anticoagulants. Three days after beginning anticoagulation therapy, she developed a diffuse intramuscular hemorrhage in the arm, which compromised predominantly ulnar fibers. The clinical, radiologic, and electrodiagnostic abnormalities are reviewed, and the possible etiologies of ulnar neuropathy are discussed. To our knowledge, this is the first report of ulnar neuropathy secondary to diffuse hemorrhage into the muscles of the arm.
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keywords = nerve
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9/208. Apoptotic features accompany acute quadriplegic myopathy.

    OBJECTIVE: To investigate the role of apoptosis in acute quadriplegic myopathy. BACKGROUND: Acute quadriplegic myopathy is a muscular disease characterized by diffuse flaccid weakness occurring in patients with severe systemic illness and exposure to corticosteroids or neuroblocking agents. Myofiber atrophy and thick filament loss are the distinguishing pathologic features on muscle biopsy. Increased calpains expression and lysosomal and nonlysosomal proteolytic pathways have been claimed as possible pathogenic factors. Nevertheless, the mechanisms leading to myofiber atrophy and thick filament loss need further investigation. patients AND methods: The expression of ubiquitin and proapoptotic proteases as well as dna fragmentation in muscle biopsies from three patients with acute quadriplegic myopathy were studied. RESULTS: All patients exhibited an important overexpression of caspases, calpain, cathepsin b, and ubiquitin, and the presence of numerous apoptotic nuclei in over 70% of myofibers. CONCLUSIONS: These data suggest that apoptosis mediated by proteolytic proteases may play a role in the pathogenesis of acute quadriplegic myopathy.
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ranking = 0.16432794348851
keywords = block
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10/208. diaphragm strength in acute systemic lupus erythematosus in a patient with paradoxical abdominal motion and reduced lung volumes.

    Diaphragmatic weakness is reported as a common feature of the shrinking lung syndrome of systemic lupus erythematosus (SLE). However, in chronic stable SLE it has been shown that, despite poor performance of voluntary tests of diaphragm strength, twitch pressures obtained by stimulating the phrenic nerves are normal. We present a patient with acute SLE and pulmonary involvement who, despite having paradoxical abdominal motion and low maximal inspiratory pressures during voluntary manoeuvres, had normal diaphragm strength when assessed with magnetic stimulation of the phrenic nerves. Following immunosuppressive therapy symptoms and lung function improved, yet diaphragm contractility remained normal and unchanged. We suggest that this case supports the view that reduced diaphragm muscle contractility per se does not explain the small volume lungs and respiratory symptoms in patients with acute SLE.
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