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121 Possible Causes for Hyperactive Brainstem Reflexes, Increased Serum Creatine Phosphate

  • Spinal and Bulbar Muscular Atrophy

    […] tendon reflexes, and Babinski signs.[] In about 25% of cases, ALS begins with brainstem symptoms (dysarthria, difficulty swallowing) followed by extremity weakness.[] […] causes initially increased electrical excitability leading to fasciculations, and later muscle weakness and atrophy; upper motor neuron involvement causes spasticity, clonus, hyperactive[]

  • Duchenne Muscular Dystrophy

    We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems. The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. Multiplex ligation-dependent probe[…][]

    Missing: Hyperactive Brainstem Reflexes
  • Becker Muscular Dystrophy

    The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne (DMD) and Becker (BMD) muscular dystrophy. Apart from "classical" clinical presentations, asymptomatic or only mildly affected individuals with deletions in the[…][]

    Missing: Hyperactive Brainstem Reflexes
  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    Careful monitoring of the serum creatine kinase and phosphate levels is essential. Intravenous fluids, furosemide, and hemodialysis are sometimes required.[] […] should be treated aggressively by increasing the fluid intake.[] There is evidence that an oral sucrose load before activity can increase exercise tolerance, but this may not be practical in every circumstance. 12 Myoglobinuria and rhabdomyolysis[]

    Missing: Hyperactive Brainstem Reflexes
  • Muscular Dystrophy-Dystroglycanopathy Type C14

    1 A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. ( 23687351 ) 2013 2 Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. ( 21109228 )[…][]

    Missing: Hyperactive Brainstem Reflexes
  • Muscular Dystrophy-Dystroglycanopathy Type C7

    Arthur G. Steinberg, Alexander G. Bearn Butterworth-Heinemann, 11.09.2013 - 160 Seiten Progress in Medical Genetics: Volume 5 covers the improvements in nutrition and control of childhood disease. This book is divided into five chapters that evaluate the characteristics of thalassemias, an inherited defect in[…][]

    Missing: Hyperactive Brainstem Reflexes
  • Limb-Girdle Muscular Dystrophy Type 2E

    READ ORPHA.NET WEBSITE ABOUT BETA-SARCOGLYOCANOPATHY LIMB-GIRDLE MUSCULAR DYSTROPHIES (LGMD) Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is[…][]

    Missing: Hyperactive Brainstem Reflexes
  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G

    Emma Ciafaloni, MD Associate Professor of Neurology and Pediatrics University of Rochester School of Medicine and Dentistry Department of Neurology Rochester, New York Patrick F. Chinnery, FRCP, FMedSci Director, Institute of Genetic Medicine Newcastle University Newcastle upon Tyne, UK Robert C. Griggs, MD[…][]

    Missing: Hyperactive Brainstem Reflexes
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Primary Outcome Measures : MRI scan for qualitative analysis of muscle involvement [ Time Frame: One MRI scan per subject (exam lasts approximately 60 min.) ] The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for[…][]

    Missing: Hyperactive Brainstem Reflexes
  • Limb-Girdle Muscular Dystrophy Type 1H

    Eur J Hum Genet. 2010 Jun; 18(6): 636–641. Luigi Bisceglia, 1 Stefano Zoccolella, 2 Alessandra Torraco, 3, 4 Maria Rosaria Piemontese, 1 Rosa Dell'Aglio, 3 Angela Amati, 5 Patrizia De Bonis, 1 Lucia Artuso, 3 Massimiliano Copetti, 6 Filippo Maria Santorelli, 4 Luigi Serlenga, 7 Leopoldo Zelante, 1 Enrico Bertini, 4 and Vittoria[…][]

    Missing: Hyperactive Brainstem Reflexes

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