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22 Possible Causes for Respiratory Function Decreased due to Muscle Weakness

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    OBJECTIVE: To describe the clinical features of a novel variant of autosomal recessive lower motor neuron disease (LMND) with childhood onset and to map the disease-causing gene. METHODS: The authors performed a clinical study in a large consanguineous African family. After linkage exclusion to SMN1 and SOD1 loci,[…][]

  • Oculopharyngodistal Myopathy

    Abstract Oculopharyngodistal myopathy is characterized by the adult onset of ptosis, external ophthalmoplegia, dysphagia, and distal weakness. Although dysphagia is common, other gastrointestinal involvement has not been described. We report a case with childhood onset who developed chronic intestinal[…][]

  • Jankovic Rivera Syndrome

    Abstract Myoclonus occurs in a variety of pathological conditions, some inherited. We recently evaluated 3 members of a Louisiana‐Texas family with an autosomal dominant disorder manifested by adult‐onset, generalized, stimulus‐sensitive myoclonus and slowly progressive distal muscle weakness and wasting. The analyses[…][]

  • Glycogen Storage Disease Type 2

    INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. METHODS: Objective is[…][]

  • Congenital Myopathy with Excess of Thin Filaments

    […] richard harpermed monash edu au hzaidiellipsisbiotherapeutics 1056 Germany HeinrichHeineUniversity 1069 james_powersurmc rochester edu IRCCS Fondazione Maugeri 1078 ROLAND REINEHR annette richterunruhendokrinologikum 1086 JOHANN OCKENGA Italy 1097 University of Cologne KHALID HUSSAIN 1120 Department of Dermatology[…][]

  • Congenital Muscular Dystrophy due to LMNA Mutation

    It's a rare disease which normally occurs either in the neonatal PHASE/PERIOD or in babyhood, 1 in 1 000 000 residents is affected. Transmission: Sporadic It belongs to the Group of Diseases of the nervous system disorders. The gene involved is lamin A/C ("LMNA") Classified by: ENSEMBL ("ENSG00000160789") GENATLAS[…][]

  • Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

    Abstract A 1-month-old Japanese girl had profound generalized weakness, hypotonia, and severe lactic acidosis. The infant improved gradually: she held her head at 9 months, learned to walk by 15 months. At the first muscle biopsy at 11 weeks of age, the specimen was characterized by numerous ragged-red fibers and[…][]

  • Amyotrophic Lateral Sclerosis 10

    Amyotrophic lateral sclerosis (ALS) is a progressive and generally fatal motor neuron disease. Most cases are sporadic, but high familial incidence is observed occasionally. Amyotrophic lateral sclerosis 10 (ALS10) is one of many subtypes of familial ALS. It has been related to mutations in the TARDBP gene, a[…][]

  • X-Linked Reducing-Body Myopathy 1A

    Bashar Katirji , Henry J. Kaminski , Robert L. Ruff Springer Science & Business Media , 11.10.2013 - 1565 Seiten Comprehensive, thoroughly updated, and expanded, Neuromuscular Disorders in Clinical Practice, Second Edition encompasses all disorders of the peripheral nervous system, covering all aspects of neuromuscular[…][]

  • Nemaline Myopathy 2

    Dr. Basil T. Darras is Associate Neurologist-in-Chief and Chief of the Division of Clinical Neurology at Boston Children’s Hospital, and the Joseph J. Volpe Professor of Neurology at Harvard Medical School. Dr. Darras is a pediatric neurologist with advanced training and certification in human genetics and neuromuscular[…][]

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