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30 Possible Causes for Areflexia, Creatine Phosphokinase Increased, Percussion Myotonia

  • Congenital Muscular Dystrophy

    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] […] muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564 MEGF10 Myopathy, early-onset, areflexia[blueprintgenetics.com] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.[en.wikipedia.org]

  • Myoadenylate Deaminase Deficiency

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[books.google.com] phosphokinase, hypoketotic hypoglycemia, and increased lipid in muscle.[rheumaknowledgy.com]

  • Oculo-Pharyngo-Distal Myopathy

    myotonia: delayed relaxation following percussion of the thenar eminence Grip myotonia: delayed relaxation of firm handshake Reflexes depressed Gait: high steppage (foot[evidencereviewed.com] Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[books.google.com] phosphokinase Dysarthria Rare Symptoms - Less than 30% cases Increased serum lactate Slow progression Proximal muscle weakness Mitochondrial myopathy Gowers sign Myalgia[mendelian.co]

  • Myopathy

    Myotonia can be elicited by percussion, occurs by impaired relaxation of muscle due to repetitive depolarization of the muscle.[doi.org] Additional symptoms may occur including abnormally long fingers and toes, absence of reflexes (areflexia), and shortening or hardening of tissue that causes deformity and[rarediseases.org] The laboratory evaluation was remarkable for the marked increase in the serum lactate dehydrogenase and creatine phosphokinase levels.[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy

    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] Attention should also be paid to muscle atrophy and to hypertrophy of selective muscle groups, including the tongue, and signs of denervation such as fasciculations and areflexia[healio.com] We present a 19-year-old girl with epilepsy and elevated creatine phosphokinase (CPK) concentration.[ncbi.nlm.nih.gov]

  • Myoglobinuria

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] The extreme temperature elevation, hyperkalemia, acidosis, and cerebral edema can affect the central nervous system (CNS), causing coma, areflexia, and dilated pupils.[emedicine.medscape.com] creatine phosphokinase (CK) in serum and appearance of small amounts of myoglobin in the urine, but without clinical symptoms.[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    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] Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[books.google.com] High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine[rarediseases.info.nih.gov]

  • Sarcotubular Myopathy

    There was no actionor percussion myotonia, or muscle rippling. The tendonreflexes and sensory examination were normal.[documents.tips] X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia[icdlist.com] PHOSPHOKINASE INCREASED Abnormality of the musculature ... ...[familydiagnosis.com]

  • Proximal Myopathy with Extrapyramidal Signs

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Mild to moderate cognitive decline is a late feature in this disease and the disorder is caused by rinucleotide expansions which is similar to EA2 ataxia, areflexia and ophthalmoplegia[quizlet.com] High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine[rarediseases.info.nih.gov]

  • Acquired Amyloid Myopathy

    Myotonia classically improves with repeated exercise, and worsens with exposure to cold.[nature.com] Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[books.google.com] phosphokinase, hypoketotic hypoglycemia, and increased lipid in muscle.[rheumaknowledgy.com]

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