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5,263 Possible Causes for Hyperactive Brainstem Reflexes, Muscle Biopsy Abnormal, Rapid Progression

  • Motor Neuron Disease

    The results of electromyography and muscle biopsy were compatible with ALS. However, supranuclear vertical gaze palsy and slow saccades are seen.[ncbi.nlm.nih.gov] Both cases showed rapid progression to mutism within a few years. Neuropathologically, frontal lobe degeneration including the precentral gyrus was observed.[ncbi.nlm.nih.gov] […] tendon reflexes, and Babinski signs.[neuropathology-web.org]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    These mitochondrial diseases are characterized by muscle weakness, exercise intolerance, elevated creatine kinase, and abnormal muscle biopsy findings.[mayomedicallaboratories.com] Disease progression was rapid, and the majority of patients died from respiratory failure within 1–5 years after onset of disease.[link.springer.com] […] tendon reflexes, and Babinski signs.[neuropathology-web.org]

  • Muscular Dystrophy

    This condition is typically characterized by large and abnormally distributed mitochondria on muscle biopsy, which can distinguish this condition from the other muscle conditions[ncbi.nlm.nih.gov] This type usually occurs in the first to third decades of life and involves: the proximal (back of the body) muscles of the pelvis and shoulders slow to fairly rapid progressive[betterhealth.vic.gov.au] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[cedars-sinai.edu]

    Missing: Hyperactive Brainstem Reflexes
  • Duchenne Muscular Dystrophy

    Diagnosis of Duchenne Muscular Dystrophy A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle[disabled-world.com] […] fibers) For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze[webmd.com] Olson also said that progress would be rapid. “To launch a clinical trial, we need to scale up, improve efficiency and assess safety,” Dr. Olson said.[web.archive.org]

    Missing: Hyperactive Brainstem Reflexes
  • Amyotrophic Lateral Sclerosis

    Only about 10% of ALS patients have abnormal nerve conduction study results, but the test can also suggest other diagnoses. A muscle biopsy.[webmd.com] We herein report a 15-year-old girl who developed rapid progressive muscle weakness soon after the third injection of a bivalent human papilloma virus (HPV) vaccine.[ncbi.nlm.nih.gov] Amyotrophic lateral sclerosis (ALS) differs from other neurodegenerations by its rapid progression and impairment of motor, cognitive, and behavioural function, which contribute[ncbi.nlm.nih.gov]

    Missing: Hyperactive Brainstem Reflexes
  • Glycogen Storage Disease Type 2

    A muscle tissue biopsy may be assayed for muscle glycogen phosphorylase enzyme activity.[encyclopedia.com] There is often a rapid progression to cardiac failure and death typically occurs within the first year.[genedx.com] Infantile-onset Pompe disease is associated with a rapid progression of disease severity and a high mortality rate. 3 Late-onset Pompe disease typically affects patients greater[avrobio.com]

    Missing: Hyperactive Brainstem Reflexes
  • Becker Muscular Dystrophy

    Electromyography was abnormal in all patients. Muscle biopsy in 1 patient demonstrated normal immunostaining for dystrophin.[ncbi.nlm.nih.gov] 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)[ncbi.nlm.nih.gov] Elevated serum CK Skeletal muscle biopsy showing decreased dystrophin quantity Panel overlap The gene on this panel is also included on our Autism Intellectual Disability[unmc.edu]

    Missing: Hyperactive Brainstem Reflexes
  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy abnormalities in two individuals very early in the course of their disease suggest that biopsy would probably be useful in detection of preclinical disease in[pediatrics.aappublications.org] Here we describe a patient with limb girdle muscular dystrophy 1A (LGMD1A) due to a novel myotilin gene (MYOT) mutation with late onset, rapid progression, loss of ambulation[ncbi.nlm.nih.gov] Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings.[ncbi.nlm.nih.gov]

    Missing: Hyperactive Brainstem Reflexes
  • Dermatomyositis

    Muscle biopsy abnormalities at some time during their disease: i. degeneration and regeneration of muscle fibers ii. necrosis iii. phagocytosis iv. interstitial mononuclear[clinicaltrials.gov] We report the case of a 8-year-old girl who presented with a rapid progression of muscle weakness and cutaneous signs consistent with the diagnosis of juvenile dermatomyositis[ncbi.nlm.nih.gov] When get a rapid progressive interstitial lung disease for no apparent reason, amyopathic dermatomyositis should be considered, especially with suspected skin lesions.[ncbi.nlm.nih.gov]

    Missing: Hyperactive Brainstem Reflexes
  • MELAS Syndrome

    Electron microscopy of a muscle biopsy sample revealed mitochondria with abnormally arranged cristae and abnormal electron densities.[mja.com.au] We report that the pathognomonic symptom in MELAS syndrome caused by this newly observed mtDNA mutation may be rapid progression of cardiomyopathy and severe heart failure[ncbi.nlm.nih.gov] Shaag et al. reported a case of a 9-year-old female with rapid progressive encephalopathy and marked lactic acidosis 5 .[nature.com]

    Missing: Hyperactive Brainstem Reflexes

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