Artrogriposa - Diagnosis

Laboratory studies:-In general are not very useful artrogripozaIs obtained if this cratinin phosphokinase generalized weakness, low muscle mass and progressive worseningCulture is performed to detect viral infectionsLevel of immunoglobulin M-specific viral titers: Coxsackie virus, enterovirusAutoantibodies against neurotransmitters maternal-fetal myasthenia gravis indicates-Cytogenetic studies are indicated in case of multiple organic damage, central nervous system abnormalitiesFobroblastului-chromosome studyDNA-mutation analysis to identify muscular dystrophyMitocondiale-analysis to identify mutations in mitochondrial myopathy.
Imaging Studies:Photography is used to document the extension deformities (artrogripozei limit movement and position) and to determine progression during treatment.Radiography is useful to evaluate the skeletal and joint abnormalities:-Scoliosis-Bone abnormalities: brittle bones, mergers, missing or extra carpalDisproportionate short-stature: skeletal dysplasia-Stiffness, the absence of patellaHumeroradiala-synostosis.Echography help evaluate the central nervous system abnormalities and other viscera. CT scan is used to evaluate muscle and brain. Magnetic Resonance hidden evaluate muscle contractures.Prenatal ultrasound reveals:-Reduction of fetal movements-Abnormal fetal position-Polihidraminos or oligohidraminos.
Muscle biopsy is the most important diagnostic procedure and should include distinguishing between the myopathic and neuropathic conditions by obtaining specimens from affected and normal areas. Electronic and histopathological studies are used to assess fat and connective tissue that replaces the muscles, decreased fiber diameter mjusculare-all signs of muscle atrophy.Electromyography normal areas and those affected by the neurogenic differentiate myopathic abnormalities. Tests measuring nerve conduction velocity in motor and sensory nerves, if peripheral neuropathy is suspected.
Histological examination in neurogenic type of artrogripoza: muscle fibers predominate or are disproportionate. Note dysgenesis of the spinal cord motor nuclei and muscle fiber bundles replacing small muscle and fat.Type myopathy show enzymatic activity areas lipza ozidative every muscle fivrelor central portion. Common diseases include: congenital muscular dystrophy, Nemaline myopathy, myasthenia gravis and mitochondrial cytopathic.The differential diagnosis is made with the following conditions: Bowen-Conrad syndrome, fetal alcohol syndrome, faciocardiomelic syndrome, multiple sclerosis mother, maternal autoantibodies, Marden syndrome, Meckel syndrome, meningomyelocele, Mietens syndrome, neurofibromatosis, congenital myotonic dystrophy, congenital myasthenia gravis, pseudotrisomia 18 , spinal muscular atrophy, Sturge-Weber syndrome, Zellweger syndrome.