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53 Possible Causes for Bilateral Pelvic Girdle Weakness, Congenital Joint Contractures - Knee Ankle Hip Elbow

  • Limb-Girdle Muscular Dystrophy

    Distribution Flexion: IP joints medial 4 fingers, wrists, elbows, ankles Proximal: Pectorals, Knees, Shoulders, Hips Truncal Congenital: Torticollis Disease progression:[neuromuscular.wustl.edu] Restrictive lung disease correlates with weakness & contractures Spine Dorsiflexion contractures at ankles in COL6A2 (G250S) mutation Course After birth: Often spontaneously[neuromuscular.wustl.edu] […] improve Joints: Some are initially hypermobile May develop contractures over time Childhood & Adult: May progress independent of weakness Some patients in families may never[neuromuscular.wustl.edu]

  • 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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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[…][ncbi.nlm.nih.gov]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Primary Hyperparathyroidism

    Article Navigation 1 Departments of Endocrinology (E.A., F.C., L.C., E.V., C.B., G.V., A.P., C.M.), University of Pisa, 56124 Pisa, Italy Search for other works by this author on: Elena Ambrogini 1 Departments of Endocrinology (E.A., F.C., L.C., E.V., C.B., G.V., A.P., C.M.), University of Pisa, 56124 Pisa, Italy Search for other works[…][doi.org]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Oculopharyngeal Muscular Dystrophy

    From Wikidata Jump to navigation Jump to search Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness Muscular dystrophy, oculopharyngeal Oculopharyngeal muscular dystrophy (disorder) OPMD[…][wikidata.org]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Inclusion Body Myositis

    The hallmark clinical presentation of inclusion-body myositis (IBM) is slowly progressive weakness that characteristically affects the quadriceps and finger and wrist finger flexor muscles. Facial weakness can also occur, but it is typically mild and not a prominent finding. We describe the clinical features, laboratory[…][ncbi.nlm.nih.gov]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Lambert Eaton Myasthenic Syndrome

    Summary Epidemiology The prevalence is estimated to be between 1/250,000- 1/333,300 worldwide. Clinical description The age of onset is typically over 40 years old, although it may occur at any age. LEMS is characterized by the clinical triad of proximal muscle weakness, autonomic disturbance, and depressed tendon[…][orpha.net]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow

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