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853 Possible Causes for MRI Shows Increased Connective Tissue and Fat, Muscle Biopsy Abnormal, Onset of Symptoms in First or Second Decade of Life

  • Limb-Girdle Muscular Dystrophy Type 2L

    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] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] […] strength or the level of dystrophic changes on muscle biopsy.[chs-journal.com]

  • Erb Muscular Dystrophy

    biopsy (examination of a sample of the weak muscle tissue under a microscope), and genetic testing.[msdmanuals.com] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Diagnostic Test Results-Diagnostic Procedures Results of biopsy of the muscle confirm the diagnosis.[quizlet.com]

    Missing: MRI Shows Increased Connective Tissue and Fat
  • 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] The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com] Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings.[ncbi.nlm.nih.gov]

    Missing: MRI Shows Increased Connective Tissue and Fat
  • Facioscapulohumeral Muscular Dystrophy

    If genetic testing does not confirm the diagnosis, then muscle biopsy can be done.[merckmanuals.com] Symptoms Symptom onset usually occurs during the second decade of life, rarely in infancy or adulthood. Facial muscles are affect first.[symptoma.com] Doctors can tell a lot from a biopsy sample, which can be subjected to many types of biochemical tests to reveal cellular and molecular abnormalities that suggest certain[web.archive.org]

    Missing: MRI Shows Increased Connective Tissue and Fat
  • Hypokalemic Periodic Paralysis

    […] during attacks Muscle biopsy, which may show abnormalities Other tests may be ordered to rule out other causes.[nlm.nih.gov] […] is typically in the first or second decade of life (60% of cases have onset aged 16 years) with susceptible individuals experiencing sudden onset of perioral numbness; weakness[mdedge.com] […] remission, onset in the first or second decade of life, and — for unknown reasons — amelioration at the age of 40 or 50.[doi.org]

    Missing: MRI Shows Increased Connective Tissue and Fat
  • Myoadenylate Deaminase Deficiency

    The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed.[ncbi.nlm.nih.gov] Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[sites.google.com] Muscle biopsy showed absence of adenosine monophosphate deaminase activity with normal cytochrome c oxidase and phosphorylase activity.[ncbi.nlm.nih.gov]

    Missing: MRI Shows Increased Connective Tissue and Fat
  • 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] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[cedars-sinai.edu] Muscle biopsies from subjects 1 and 3 were severely dystrophic with abnormal immunofluorescence and western blotting indicative of α-dystroglycan hypoglycosylation.[ncbi.nlm.nih.gov]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • 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] A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle.[genome.gov]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • Rhabdomyosarcoma

    We report a case of vaginal rhabdomyosarcoma where vaginectomy with buccal mucosa vaginoplasty was performed to avoid radiation therapy to the young pelvis. The patient presented at 30 months with an exophytic vaginal mass, found to be botryoid rhabdomyosarcoma. After receiving neoadjuvant vincristine,[…][ncbi.nlm.nih.gov]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • 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] The patient had noted clumsiness and weakness in all extremities 5 years before presentation of abnormal eye movements.[ncbi.nlm.nih.gov]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life