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Limb Girdle Muscular Dystrophies.
Bockhorst, J, Wicklund, M
Neurologic clinics. 2020;(3):493-504
Abstract
The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on muscle biopsy. Distinctive clinical features provide valuable diagnostic clues to the diagnosis and sometimes treatment of these disorders. The advent of gene and cell-based therapies; gene replacement, editing, and modulation; along with stem cell and small molecule therapies may significantly ameliorate clinical severity in the LGMDs.
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2.
Severe hyperammonemia from intense skeletal muscle activity: A rare case report and literature review.
Taneja, V, Jasuja, H
Medicine. 2019;(47):e17981
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Abstract
RATIONALE Adult hyperammonemia is most often the result of hepatic dysfunction. Hyperammonemia in the setting of normal hepatic function is a much less common phenomenon and has usually been associated with medications and certain disease states. Here, we present an unusual case of severe hyperammonemia caused physiologically by intense muscle activity in a patient lacking any evidence of liver disease. PATIENT CONCERNS A 36-year-old woman was brought to the emergency department for a suicide attempt after being found covered in Lysol and Clorox germicidal bleach. She was noted to be in a state of violent psychosis with extreme agitation and had to be sedated and intubated for airway protection. DIAGNOSIS AND INTERVENTIONS Initial labs revealed hyperammonemia, lactic acidosis, and anion gap metabolic acidosis. Aminotransferases, bilirubin, and creatine kinase (CK) were normal. Renal function, prothrombin time, activated partial thromboplastin time, and international normalized ratio were also unremarkable and remained so at 24 hours. Ethyl alcohol, acetaminophen, salicylate, and valproic acid were all undetectable in blood. She received 2 doses of lactulose overnight, with a subsequent bowel movement. Next day, her mentation, serum ammonia level, and lactic acid level were back to normal, and she was extubated. Aminotransferases and CK levels were elevated but improved with supportive care. A detailed history and relevant biochemical investigations were unremarkable for any other etiology of hyperammonemia including the common inborn errors of metabolism (IEM). The combination of clinical findings of extreme skeletal muscle activity along with hyperammonemia and lactic acidosis, and subsequently rhabdomyolysis in the setting of unremarkable history and otherwise normal hepatic function strongly suggest the myokinetic origin of hyperammonemia in the patient. OUTCOME The patient recovered well with supportive care and was discharged on day 5. LESSONS This unique case illustrates the important role of skeletal muscle in the human metabolism of ammonia. In our discussion, we also elucidate the underlying pathophysiology, with the objective of improving clinician understanding of various differential diagnoses.
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A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.
Astrea, G, Munteanu, I, Cassandrini, D, Lillis, S, Trovato, R, Pegoraro, E, Cioni, G, Mercuri, E, Muntoni, F, Battini, R
Pediatric neurology. 2015;(5):548-51
Abstract
BACKGROUND Congenital myopathies are inherited primary disorders of the muscle caused by mutations affecting structural, contractile, or regulatory proteins. In the more than 20 genes associated to these conditions, ryanodine receptor type 1 gene (RYR1) is responsible for the most common forms and is associated with a wide range of clinical phenotypes and pathological findings. Magnetic resonance imaging of muscle has been used increasingly to direct genetic testing in myopathies. PATIENT DESCRIPTION We describe a consanguineous family affected by cystinuria type B, a metabolic condition linked to chromosome 19q13.2, and a different muscle phenotype that, although related to a congenital myopathy, does not have the striking histological features helping in direct genetic tests. RESULTS The assessment of the selective involvement on muscle magnetic resonance imaging allowed the suspicion of RYR1 as the most likely gene responsible for this myopathy. The diagnosis was subsequently confirmed by the finding of a recessive RYR1 mutation. CONCLUSIONS The occurrence of congenital myopathy together with cystinuria type B is reported for the first time. The use of muscle magnetic resonance imaging and the homozygosity by descent in SLC7A9, a gene flanking RYR1, allowed us to discover a new mutation in the RYR1 gene.
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[Antipsychotics and rhabdomyolysis. Differential diagnosis and clinical significance of elevated serum creatine kinase levels in psychiatric practice].
Vörös, V, Osváth, P, Fekete, S, Tényi, T
Psychiatria Hungarica : A Magyar Pszichiatriai Tarsasag tudomanyos folyoirata. 2009;(3):175-84
Abstract
INTRODUCTION Elevated serum CK levels often occur in everyday psychiatric clinical practice. Although the majority of cases are benign and temporary, it is important to recognize and treat these conditions. METHOD Review of the literature and case reports. RESULTS The authors discuss the etiology, the clinical significance and the management of elevated serum creatine-kinase levels in psychiatric in-patient practice, focusing on antipsychotic-induced rhabdomyolysis. The authors also compare the pathogenesis, the clinical features and the treatment of neuroleptic malignant syndrome and rhabdomyolysis. A brief, practical guideline is introduced, which may help clinicians in the differential diagnosis and in the management of patients with elevated serum creatine kinase activity in emergent psychiatric practice. CONCLUSION The most common etiologic factors (prescription drugs, alcohol, physical reasons, cardiac etiology) and clinical syndromes (rhabdomyolysis, neuroleptic malignant syndrome, acute coronary syndrome) should be considered, when elevated creatine kinase levels are encountered in psychiatric in-patients. Routine creatine kinase measurements in asymptomatic patients on antipsychotic medications are not recommended, but patients should be carefully followed for the development of rhabdomyolysis, when muscular symptoms arise. Cautiously challenging patients with another antipsychotic after an antipsychotic-induced rhabdomyolysis is recommended to decrease the possibility of recurrence. Careful monitoring of symptoms and potential complications is critical in order to avoid devastating clinical consequences.
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Focal myositis of the calf following S1 radiculopathy.
Gross, R, Degive, C, Dernis, E, Plat, M, Dubourg, O, Puéchal, X
Seminars in arthritis and rheumatism. 2008;(1):20-7
Abstract
OBJECTIVES To determine the clinical, pathological, and magnetic resonance imaging (MRI) characteristics and outcome of focal myositis of the calf associated with S1 radiculopathy. METHODS Case report and systematic review of literature using a literature review based on a Medline search from 1950 to 2006. Only cases with myositis documented on muscle biopsy examination were included. RESULTS Six patients, including ours, with focal myositis of the calf associated with chronic S1 radiculopathy have been reported. Creatine phosphokinase levels were high in 5 cases. MRI provided evidence of global hypertrophy and inflammatory signals affecting the whole of 1 or several muscle heads of the triceps. Electromyography confirmed the existence of neurogenic abnormalities with nearly constant spontaneous activity. Histological analysis of muscle tissue showed an inflammatory infiltrate and denervation lesions. Progression was slow and corticosteroid treatment had little effect. There was no extension toward a diffuse form. CONCLUSIONS Hypertrophy in a denervated muscle should lead the physician to consider a diagnosis of localized secondary myositis. On the other hand, localized hypertrophic myositis is suggestive of previous radicular distress in the territory concerned. The identification of this condition in focal myositis makes it possible to avoid unnecessary additional investigations and escalation of treatment.
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Bilateral and recurrent myositis ossificans in an athlete: a case report and review of treatment options.
Miller, AE, Davis, BA, Beckley, OA
Archives of physical medicine and rehabilitation. 2006;(2):286-90
Abstract
An unusual case of recurrent myositis ossificans (MO) bilaterally in the hamstring muscles of a 47-year-old athlete secondary to trauma is presented with a review of the literature of current treatment options. MO is a common condition that occurs among athletes in association with muscle and/or tendon strain or contusion. After an extensive literature review, we believe this to be the first case reported of recurrent and bilateral MO in a nonsurgical setting from recurrent hamstring strains. Plain radiographs and physical examination revealed the appearance and chronology of this pathology. Treatment options to improve flexibility and decrease morbidity are discussed along with prophylaxis for future injury. Treatment of mobility and flexibility, rehabilitation goals and treatment with nonsteroidal anti-inflammatory drugs, bisphosphonates, and magnesium are discussed along with prophylaxis.
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7.
Unusual muscle disease in HIV infected patients.
Roedling, S, Pearl, D, Manji, H, Hanna, MG, Holton, JL, Miller, RF
Sexually transmitted infections. 2004;(4):315-7
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Abstract
Two patients presented with proximal muscle weakness, a normal or minor elevation of creatine phosphokinase (CPK) and normal findings on electromyography. Muscle biopsy in one patient revealed CD8+ polymyositis, and in the other showed ddI induced myopathy. These cases illustrate the importance of muscle biopsy in identifying the underlying pathology in HIV infected patients with muscle weakness and little or no abnormality in laboratory investigations.
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8.
Tubular aggregate myopathy: a case report.
Kim, NR, Suh, YL
Journal of Korean medical science. 2003;(1):135-40
Abstract
We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori's trichrome and intensive blue with nicotinamide adenonine dinucleotide-tetrazolium reductase, respectively. Ultrastructurally, aggregates of 60 nm-sized hexagonal tubules were found in both type 1 and type 2 fibers. We briefly review the pathologic findings of the previously reported cases of tubular aggregate myopathy and discuss the possible pathogenesis of this disease. We briefly discuss the possible pathogenesis of sarcoplasmic reticulum and review the ultrastructural characteristics.
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[Lafora's disease: diagnosis by muscle biopsy (case report)].
Carvalho, AA, Palou, V, Rocha, MS, Brucki, SM, Argentoni, M
Arquivos de neuro-psiquiatria. 2000;(4):1118-22
Abstract
A 16-year-old female patient had myoclonic epilepsy caused by Lafora's disease. Muscle biopsy showed a prominent splitting pattern in muscle fibers with the nicotinamide adenine nucleotide dehydrogenase-tetrazolium reductase reaction, hematoxylin-eosin, and PAS stains. This morphologic appearance of the tissue permits diagnosis using the benign technique of muscle biopsy. The ultrastructural examination of muscle may be necessary to confirm the diagnosis of Lafora myoclonus epilepsy if light microscopical findings are equivocal.
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[Polymyositis with marked paravertebral muscle atrophy in patients with primary biliary cirrhosis].
Matsui, K, Aizawa, Y, Inoue, K, Yaguchi, H, Toda, G
Rinsho shinkeigaku = Clinical neurology. 2000;(7):694-700
Abstract
We reported two patients with polymyositis (PM) associated with primary biliary cirrhosis (PBC) who noticed head-drop as the incipient symptom. Muscle computed tomography showed marked hypodensity in the paravertebral muscles as compared with limb muscles. Patient 1, a 48-year-old female, was admitted in our hospital for the examination because of her neck and proximal limb muscle weakness, increasing fatigability, and abnormal serum liver and muscle enzyme levels. She felt her throat was so dry at age 39, and she noticed weight loss at age 41 and head-drop at age 42. A diagnosis of PM was made from symmetrical proximal limb muscle weakness, elevated creatine kinase (CK) level, and the electromyographic and muscle biopsy findings. Her illness was also diagnosed as PBC because of the increased serum alkaline phosphatase and IgM immunoglobulin levels, and liver biopsy findings. The anticentromere antibody titer was positive, though the antimitochondrial antibody titer negative. The HLA typing was DR 4, DR 8, DR53, DQ 4, DQ 6, DRB 1 (0405/0803). She was placed on 60 mg of prednisolone/day for PM and 300 mg of ursodeoxycholic acid/day for PBC. Patient 2, a 49-year-old female, presented with proximal limb muscle weakness and head-drop. Serum CK, alkaline phosphatase and IgM immunoglobulin levels were increased. The antimitochondrial antibody titer was positive. She began to have 60 mg of prednisolone/day, and 50 mg of azatioprine/day and 300 mg of ursodeoxycholic acid/day were subsequently added. PM associated with PBC seems to be rare, because only 21 cases have been described in literature. In those patients, marked paravertebral muscle atrophy has never been described. Further study is necessary to examine whether or not the preferential paravertebral muscle involvement is a striking and diagnostic finding for PM with PBC.