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12 Possible Causes for Clonus, 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] Calf pseudohypertrophy may resemble that seen in Duchenne muscular dystrophy CNS malformation and abnormal white matter: may be evident as: Pyramidal signs (hyperreflexia, clonus[ncbi.nlm.nih.gov] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.[en.wikipedia.org]

  • Myoglobinuria

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Hyperthermia, tremor, nausea, vomiting, and clonus are common signs.[unboundmedicine.com] creatine phosphokinase (CK) in serum and appearance of small amounts of myoglobin in the urine, but without clinical symptoms.[ncbi.nlm.nih.gov]

  • 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] Ankle clonus may be present, and it develops into a spastic, foot dragging 'shoe-scuffing' gait.[patient.info] 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]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    The demonstration of grip or percussion myotonia and facial weakness in the mother establishes the diagnosis of myotonic dystrophy.[mrineonatalbrain.com] […] disability Dystonia Ataxia Spasticity Muscular hypotonia of the trunk Abnormality of extrapyramidal motor function Tremor Abnormal pyramidal sign Autosomal dominant inheritance Clonus[mendelian.co] He had several beats of clonus. The diagnosis of a former premature infant with multiple significant medical problems was made including microcephaly.[pediatriceducation.org]

  • Bonnemann-Meinecke-Reich Syndrome

    myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Distichiasis Wrist flexion contracture Constrictive median neuropathy Coronal[mendelian.co] Myoclonic spasms Limb joint contracture Muscle fibrillation Recurrent infections Macrogyria Abnormality of mitochondrial metabolism Abnormal autonomic nervous system physiology Clonus[mendelian.co] phosphokinase Intellectual disability, severe Arrhythmia Cerebral atrophy Mandibular prognathia Progeroid facial appearance Macrocephaly Hip dysplasia Gait disturbance High[mendelian.co]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    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] Calf pseudohypertrophy may resemble that seen in Duchenne muscular dystrophy CNS malformation and abnormal white matter: may be evident as: Pyramidal signs (hyperreflexia, clonus[ncbi.nlm.nih.gov] […] of creatine phosphokinase (CK), myoglobinuria and occasional muscle cramps.[news-medical.net]

  • Rigid Spine Syndrome

    […] nigricans Hypertriglyceridemia Atrial fibrillation Macrocephaly Accelerated skeletal maturation Recurrent bacterial infections Insulin resistance Epidermal acanthosis Hirsutism Percussion[mendelian.co] Calf pseudohypertrophy may resemble that seen in Duchenne muscular dystrophy CNS malformation and abnormal white matter: may be evident as: Pyramidal signs (hyperreflexia, clonus[ncbi.nlm.nih.gov] […] variability in muscle fiber diameter Constipation Hypoventilation Hypertension Mildly elevated creatine phosphokinase Muscular dystrophy Infantile onset Heterogeneous Facial[mendelian.co]

  • Progressive Pseudorheumatoid Dysplasia

    myotonia Cleft palate Limitation of knee mobility Restrictive ventilatory defect Retinoschisis Limited hip movement Vitreoretinal degeneration Limited elbow movement Disproportionate[mendelian.co] […] ossification Abnormality of the nail Hyperactive deep tendon reflexes Nuclear cataract Slurred speech Lipoatrophy Decreased muscle mass Laryngomalacia Cardiomegaly Choreoathetosis Clonus[mendelian.co] […] urinary O-linked sialopeptides Calf muscle hypertrophy Anterior beaking of lumbar vertebrae Myalgia Elevated serum creatine phosphokinase Thickened skin Progressive neurologic[mendelian.co]

  • Lenz-Majewski Syndrome

    myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Distichiasis Wrist flexion contracture Constrictive median neuropathy Coronal[mendelian.co] Central nervous system (CNS) examination showed increased tone in all four limbs with brisk reflexes and sustained clonus.[jpma.org.pk] phosphokinase Intellectual disability, severe Arrhythmia Cerebral atrophy Mandibular prognathia Progeroid facial appearance Macrocephaly Hip dysplasia Gait disturbance High[mendelian.co]

  • Autosomal Dominant Myoglobinuria

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Hyperthermia, tremor, nausea, vomiting, and clonus are common signs.[unboundmedicine.com] […] with common exertional activities (e.g. 20x normal at 1 day after marathon) See Creatine Phosphokinase Myoglobin level increased Increased in urine or serum, but has lower[fpnotebook.com]

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