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62 Possible Causes for Presynaptic Defect at the Neuromuscular Junction, Type 2 Fiber Atrophy (Muscle Biopsy)

Did you mean: Presynaptic Defect at the Neuromuscular Junction, Type 2 Fiber Atrophy (Muscle Biopsy

  • Idiopathic Camptocormia

    Botulinum toxin : Botulinum toxin acts by producing chemodenervation and local paralysis in the injected muscle due to presynaptic neuromuscular junction defect.[ijmr.org.in] T2-weighted image of lumbar spine MRI showing significant atrophy of right spine erector muscle Zoom A deltoid muscle biopsy showed nemaline bodies in type 2 fibers which[em-consulte.com]

  • Congenital Slow-Channel Myasthenic Syndrome Type 4A

    […] within the neuromuscular junction Presynaptic Synaptic Postsynaptic P.J.[authorstream.com] Thus, a presynaptic defect of acetylcholine resynthesis, packaging or mobilisation was proposed ( 8, 9, 16 ).[academic.oup.com] Lorenzoni et al. / Pediatric Neurology 46 (2012) 141- 148 PowerPoint Presentation: PRESYNAPTIC DEFECTS rarest, affecting an estimated 7-8% of patients 4 subtypes Episodic[authorstream.com]

  • Familial Infantile Myasthenia

    Thus, a presynaptic defect of acetylcholine resynthesis, packaging or mobilisation was proposed ( 8, 9, 16 ).[academic.oup.com] Morphological studies in three patients with FIM ( 9 ) showed no abnormalities of the neuromuscular junction; no histological or ultrastructural evidence for AChR deficiency[academic.oup.com]

  • Congenital Myasthenic Syndrome

    Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction.[ncbi.nlm.nih.gov] Muscle biopsy showed type 2-fiber atrophy, without tubular aggregates.[pagepressjournals.org] biopsy Type 2 fiber predominance Atrophy No tubular aggregates CNS Cerebral atrophy: Progressive Delayed myelination Astrocytosis Neuron loss: Multifocal EEG Burst-suppression[neuromuscular.wustl.edu]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    […] at birth, or shortly thereafter; muscle biopsy indicative of neurogenic atrophy involving both fiber types; histology consistent with Werdnig-Hoffmann; EMG indicative of[nature.com] All families ( Table 1 ) were ascertained based on affected male probands showing: clinical findings of severe hypotonia ( Table 2 ; Fig. 1 ), contractures and/or fractures[nature.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Ptosis

    These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] […] external auditory canals as anomalies associated with the disorder. [2,3] 4.9 Congenital myasthenic syndromes (CMS) CMS are a heterogeneous group of disorders affecting neuromuscular[journals.lww.com]

    Missing: Type 2 Fiber Atrophy (Muscle Biopsy)
  • Menkes Disease

    […] with type 2 fiber atrophy.[ncbi.nlm.nih.gov] The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes’ disease are discussed. Key words: Menkes’ disease, copper, ceruloplasmin.[scielo.br] The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes disease are discussed.[ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Secondary Myopathy

    Muscle biopsies reveal a wide spectrum of histological abnormalities, including type 2 muscle fiber atrophy with or without type 1 fiber atrophy, scattered necrotic muscle[sites.google.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Myopathy

    Electrical muscle stimulation restored GLUT4 translocation to the sarcolemmal membrane and rescued fiber atrophy in patients with CIM. 8 Muscle biopsies often show type 2[now.aapmr.org] Muscle biopsy may show type 2 fiber atrophy. Cachectic myopathy remains a diagnosis of exclusion.[doi.org] atrophy of type 2 greater than type 1 fibers thought to be related to reduced protein synthesis rather than an increased catabolic effect. 19 Electromyography (EMG) and nerve[jaoa.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Steroid Myopathy

    OBJECTIVE: Muscle biopsies from chronic steroid (glucocorticoid) myopathy, non-steroid histochemical type-2 fiber atrophy, and muscle denervation patients were studied to[ncbi.nlm.nih.gov] Muscle biopsy may show type 2 fiber atrophy. Cachectic myopathy remains a diagnosis of exclusion.[frontiersin.org] atrophy of type 2 greater than type 1 fibers thought to be related to reduced protein synthesis rather than an increased catabolic effect. 19 Electromyography (EMG) and nerve[jaoa.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction

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