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53 Possible Causes for Bilateral Pelvic Girdle Weakness, Presynaptic Defect at the Neuromuscular Junction

  • Lambert Eaton Myasthenic Syndrome

    A c.923C T variant affecting an adjacent residue (p.Pro308Leu) produced a presynaptic neuromuscular junction defect and a dominant hereditary motor neuropathy in a second[ncbi.nlm.nih.gov] Classification of congenital myasthenic syndrome Usually classified according to the defective site of the neuromuscular junction, it is often divided into presynaptic, synaptic[intechopen.com] Lambert–Eaton myasthenic syndrome (LEMS) is also an autoimmune disorder of the neuromuscular junction, but differently from MG, the defect of transmission is presynaptic type[ncbi.nlm.nih.gov]

  • Polymyalgia Rheumatica

    A 50-year-old Japanese man was referred to our department with pain in his limb joints persisting for 3 months. Although his joints showed no redness, swelling or tenderness, he had a limited range of motion of his hip and shoulder joints, suggesting a diagnosis of polymyalgia rheumatica (PMR). However, his[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Duchenne Muscular Dystrophy

    The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Erb Muscular Dystrophy

    Symptoms - Muscular dystrophy limb girdle type 2A- Erb type Muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle.[checkorphan.org] The disability experienced by patients is fairly minimal, although frozen shoulder syndrome may significantly alter function if it is bilateral.[checkorphan.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • 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[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Primary Hyperparathyroidism

    Jpn J Radiol. 2017 Aug;35(8):409-416. doi: 10.1007/s11604-017-0658-3. Epub 2017 Jun 21. Author information 1 Department of Radiology, St. Marianna University School of Medicine, Yokohama City Seibu Hospital, 1197-1 Yasashicho, Asahi-ku, Yokohama, Kanagawa, 241-0811, Japan. yamataka@marianna-u.ac.jp. 2 Department of[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Oculopharyngeal Muscular Dystrophy

    BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) has long been characterized by a combination of bilateral ptosis and dysphagia and subsequent limb girdle weakness. The role of the typical intranuclear inclusion in the pathophysiology is unresolved. OBJECTIVE: The aim of this study was to describe the clinical[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Limb-Girdle Muscular Dystrophy

    Practice Essentials Limb-girdle muscular dystrophy refers to a group of disorders that cause weakness and wasting of the muscles around the shoulders and hips. Signs and symptoms All patients have a history of progressive, symmetric proximal muscle weakness that usually starts in childhood to young adulthood.[…][emedicine.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Inclusion Body Myositis

    Site presented by Bill Tillier. Search the site. Return to top Introduction: This web page presents information on inclusion body myositis (IBM). IBM is spontaneous — it just strikes "out of the blue" and is non-inherited. It is usually called spontaneous inclusion body myositis, usually abbreviated as sIBM. Hereditary[…][ibmmyositis.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Steroid Myopathy

    Steroid myopathy is a condition characterized by weakness of the proximal muscles of the arms and legs and the flexor muscles of the neck. It can be caused by excessive endogenous or exogenous steroids and can be either acute in onset or chronic. Steroid myopathy (SM) was first described in 1932 by Cushing. It[…][symptoma.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction

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