Create issue ticket

1,009 Possible Causes for Normal Muscle Biopsy, Persistent Notochordal Canal, Proximal Muscle Weakness Limb Girdle Distribution

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Limb-Girdle Muscular Dystrophy

    LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles.[ncbi.nlm.nih.gov] biopsies of patients with polymyositis (PM, n 10), dermatomyositis (DM, n 10), limb girdle muscular dystrophy (LGMD, n 10) and in 10 controls with normal muscle biopsy results[link.springer.com] Introduction Limb girdle muscular dystrophy (LGMD) is a muscular dystrophy with predominantly proximal distribution of weakness that spares the distal, facial, and extraocular[circheartfailure.ahajournals.org]

    Missing: Persistent Notochordal Canal
  • Emery-Dreifuss Muscular Dystrophy Type 2

    ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] An electrocardiography was normal. Creatine phosphorus-kynase level in the blood was normal. Muscle biopsy revealed normal findings.[ajnr.org] However, neuropathic patterns have been described in some cases of autosomal dominant and X-linked forms. 13 Muscle biopsy results normally reveal nonspecific myopathic/dystrophic[elsevier.es]

    Missing: Persistent Notochordal Canal
  • X-linked Distal Spinal Muscular Atrophy Type 3

    ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] Skeletal muscle biopsies from two affected individuals were essentially normal, and nerve conduction studies from one affected individual were normal.[ncbi.nlm.nih.gov] : atrophy of groups of motor units interspersed with normal or hypertrophied motor units All the muscle fibers of a single denervated motor unit atrophy together.[amboss.com]

    Missing: Persistent Notochordal Canal
  • Emery-Dreifuss Muscular Dystrophy Type 1

    ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] An electrocardiography was normal. Creatine phosphorus-kynase level in the blood was normal. Muscle biopsy revealed normal findings.[ajnr.org] The biopsy shows atrophy of type 1 fibers, a profusion of central nuclei (normally myonuclei are under the sarcolemma), and ring fibers.[neuropathology-web.org]

    Missing: Persistent Notochordal Canal
  • Emery-Dreifuss Muscular Dystrophy

    ) • Progressive atrophy of humero-peroneal distribution (proximal muscles of upper limb and distal muscles of lower limb).[physio-pedia.com] Muscle biopsy specimens revealed the variable muscle fiber size due to atrophy, hypertrophy, and muscle fiber splitting.[ncbi.nlm.nih.gov] An electrocardiography was normal. Creatine phosphorus-kynase level in the blood was normal. Muscle biopsy revealed normal findings.[ajnr.org]

    Missing: Persistent Notochordal Canal
  • Limb-Girdle Muscular Dystrophy Type 2J

    A muscle biopsy looks at the muscle fibres and whether they appear normal or not.[treat-nmd.eu] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Progressive muscle tissue damage causes weakness and sometimes loss of muscle bulk or replacement of normal muscle structure by fat or scar tissue.[my.clevelandclinic.org]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Nemaline Myopathy

    By light microscopy, muscle biopsies ranged from almost normal, to chronic myopathy with sarcoplasmic and intranuclear rods.[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Biopsy of clinically uninvolved gracilis muscle outside of the radiation portal revealed normal histology and ultrastructure.[ncbi.nlm.nih.gov]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Inclusion Body Myopathy

    muscle weakness in whom the main limb-girdle muscular dystrophy syndromes had been ruled out; and 2) 38 patients with a distal distribution of weakness in whom a neurogenic[ncbi.nlm.nih.gov] Immunocytochemical and immunoblot analysis showed that alpha-DG extracted from muscle biopsies was normally expressed and displayed its typical molecular mass.[ncbi.nlm.nih.gov] , a family history positive for muscle cramping and muscle disease, normal clinical neurologic examination, and myogenic needle EMG, muscle biopsy was indicative of hereditary[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Scapuloperoneal Spinal Muscular Atrophy

    Skeletal muscle biopsies from two affected individuals were essentially normal, and nerve conduction studies from one affected individual were normal.[ncbi.nlm.nih.gov] notochordal canal syndrome Sacral agenesis syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome SACRAL syndrome Sacrococcygeal teratoma[orpha.net] Muscle biopsy revealed characteristic neurogenic findings: fiber type grouping and group atrophy.[n.neurology.org]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution