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48 Possible Causes for Muscle Biopsy Abnormal, Percussion Myotonia

  • Myotonia Congenita

    Biopsied muscle specimens and EMG findings showed non-specific mild myopathic changes. There was no abnormal expansion of CTG repeat within the myotonic dystrophy gene.[ncbi.nlm.nih.gov] The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic[ncbi.nlm.nih.gov] Distribution/anatomy Time course Onset/age Myotonia is usually mild, approximately 50% may have percussion myotonia.[rrnursingschool.biz]

  • 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] Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[cedars-sinai.edu]

  • Paramyotonia Congenita

    On the basis of clinical findings in this family, persistent proximal muscle weakness, myopathic EMG abnormalities, a type IIB atrophy on muscle biopsy and no symptoms but[ncbi.nlm.nih.gov] They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms.[ncbi.nlm.nih.gov] […] during attacks Muscle biopsy, which may show abnormalities Other tests may be ordered to rule out other causes.[medlineplus.gov]

  • 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] Patients with myotonic dystrophy type 1 may present subtle myotonia and it may be necessary to search for tenar muscle percussion myotonia 15.[doi.org] Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings.[ncbi.nlm.nih.gov]

  • Hypokalemic Periodic Paralysis

    […] during attacks Muscle biopsy, which may show abnormalities Other tests may be ordered to rule out other causes.[nlm.nih.gov] myotonia MC, PMC, PAM Physical exam with some of: fifth digit clinodactyly, ocular hypertelorism, low-set ears, webbed fingers/toes, broad nasal root, small mandible, short[translational-medicine.com] Include of muscle biopsy to the patient with Hypokalemic Periodic Paralysis may show abnormalities.[nurse-ocha.com]

  • Myopathy

    Clinical presentation, abnormal secretion of the collagen demonstrated in muscle biopsy and the COL6A1 c.1056 3A C mutation justify classification of the presented case as[ncbi.nlm.nih.gov] Myotonia can be elicited by percussion, occurs by impaired relaxation of muscle due to repetitive depolarization of the muscle.[doi.org] Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 2006;77:208-15.[rarediseases.org]

  • Generalized Myotonia of Thomsen

    Muscle biopsy (vastus lateralis) is abnormal even with normal manual strength testing being normal. The disorder is linked to the DM2 locus at chromosome 3q21.[neuroweb.us] On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com] Secondary outcomes: (1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of percussion myotonia; and (5) adverse events.[cochrane.org]

  • 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] "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] […] on hands, brachial biceps and deltoids (triggered by percussion), and difficulty in starting gait due to myotonia.[scielo.br]

  • Schwartz-Jampel Syndrome

    Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic features.[ncbi.nlm.nih.gov] Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest[ncbi.nlm.nih.gov] He had diffuse muscular hypertrophy and stiffness with eyelid myotonia, tongue myotonia, percussion myotonia at thenar eminence [Figure 2] and forearm muscles.[amhsjournal.org]

  • Myotonic Dystrophy

    We have analysed the insulin pathway in skeletal muscle biopsies and in myotube cultures from DM patients to assess whether downstream metabolism might be dysregulated and[ncbi.nlm.nih.gov] Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] DM is marked by characteristic changes in the structure of muscle cells that can be seen on a muscle biopsy.[healthofchildren.com]

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