Titlebook: Neuromuscular Disease; Case Studies from Qu Hadi Manji,Chris Turner,Matthew R. B. Evans Book 2017 Springer-Verlag London Ltd. 2017 Neuromus

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A Lady with Ataxia – An Example of Hickam’s Dictumt causes are paraneoplastic disorders and HIV. Sj?gren’s syndrome is rare, difficult to diagnose and to treat. A high index of suspicion for a neoplasm is required and recurrent investigation necessary when no cause found.

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Not a Laughing Matter Typical but severe cases of subacute combined degeneration of the cord are increasing in the context of the popularity of this drug and demyelinating neuropathy presentations such as in this case may be seen.

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apiary

A Woman with Burning Hands Nerve conduction studies and thermal thresholds are normal. Her father was reported to have Fabry disease. Genetic testing confirms the presence of a heterozygous mutation in the alpha-galactosidase gene.

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A Young Man with Blurred Vision and Foot Drop of suspicion is needed to enable early diagnosis and institution of effective treatment before too much irreversible neurological deficit has accrued. Specialist tests and a specialist centre for treatment may be required.

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Progressive Motor Weakness in a Somalian Manogical disease. Nerve conduction studies reveal normal sensory responses with reduced or absent motor responses in the upper and lower limbs. Genetic testing reveals a heterozygous mutation in the Heat Shock Protein B1 (HSPB1) gene confirming the diagnosis of distal hereditary motor neuropathy.

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A Man with a Pacemaker Develops Difficulty Walkingwith bilateral carpal tunnel syndrome. Four years before the development of neurological symptoms he had a permanent pacemaker inserted. Amyloid deposits were detected on sural nerve biopsy. A mutation in the transthyretin gene (Val30Met) confirms the diagnosis of Familial amyloid polyneuropathy.

DEBT

Matthew R. B. Evans MBBS,Zane Jaunmuktane MD,Sebastian Brandner MD,Hadi Manji MA, MD, FRCPcture, - Source, name of the genus, species, authors, family of the biological source from which the glycoside has been isolated, - Melting point, - Specific rotation, - Molecule weight, - Molecular formula, - UV spectral data : maxima, e or log e , solvent, - IR peaks in cm.-1. with medium in which

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