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Congenital Myopathies

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  • Congenital Myopathies

    Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.

  • Congenital Myopathies

    No specific treatment is available for any of the congenital myopathies, but aggressive supportive care is essential to preserve muscle activity, to allow for maximal functional ability, and to prolong life expectancy. The primary concerns affecting prognosis are preventing and correcting skeletal abnormalities (eg, scoliosis, foot deformities, contractures) to maintain ambulation, and to prevent or delay the development of respiratory insufficiency. Respiratory failure due to diaphragmatic weakness can occur at any age and may be independent of the degree of limb weakness. A restrictive pattern on pulmonary function tests (PFTs) may be apparent before the onset of symptoms.

  • Congenital Myopathies

    In muscular dystrophies, the election of the muscle for biopsy is of main importance and the neurologist should in occasions ask for an MRI for this purpose in order to choose a muscle not replaced by fatty tissue. In order to be updated gene table consultation is advisable; an immunohistochemical algorithm as well as Western Blot is proposed. Congenital muscular dystrophy classification is simplified, considering those with no central nervous system involvement and those with white matter changes or abnormal neuronal migration. In some limb girdle dystrophies.

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