Presentation
Advances in clinical and genetic characterization of minicore myopathy have revealed an expanded clinical spectrum, with a minority of affected children presenting in early infancy with severe muscle weakness. [medlink.com]
The condition has kept stable up to present [Fig 2 a-c]. DISCUSSION MmD usually presents as congenital myopathy2-7 rarely as adult-onset disease12. [scielo.br]
We describe a patient who presented as a floppy baby and remained weaker throughout his life than any other patients previously described. Biopsy findings were characteristic of multicore disease. [jamanetwork.com]
Spinal rigidity of varying severity is present. Diagnosis/testing. [ncbi.nlm.nih.gov]
The most common type of nemaline rod myopathy presents in the infantile stage with 42% of patients presenting in the neonatal period. [6] While there has been an association with polyhydramnios, decreased fetal movements, and an abnormal fetal presentation [emedicine.medscape.com]
Entire Body System
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Weight Gain
Hydrotherapy and physiotherapy were recommended and weight gain was discouraged. Prognathism was detected at age 12 and corrected by conservative orthodontic methods, remaining mild. [scielo.br]
Cardiovascular
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Mitral Valve Prolapse
Mitral valve prolapse is occasionally seen. Other features. Most individuals have short stature and failure to thrive. Some individuals are slender and have a marfanoid habitus but no other features of Marfan syndrome. Course. [ncbi.nlm.nih.gov]
Musculoskeletal
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Foot Deformity
elongated facies, high arched palate, pectus carinatum, scoliosis, foot deformities). [ncbi.nlm.nih.gov]
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Chest Deformity
High-arched palate and chest deformities are common. [ncbi.nlm.nih.gov]
Neurologic
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Gowers Sign
Pelvic girdle deficit was evident by Gowers sign and a slightly clumsy gait. Muscle stretch reflexes were present. No facial muscle deficit, ophthalmoparesis or other neurological abnormal function were detected. [scielo.br]
Treatment
Aggressive treatment of lower respiratory infections is critical. [ncbi.nlm.nih.gov]
Standard Therapies Treatment The treatment of central core disease (CCD) is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
Prognosis
Nocturnal ventilation, when indicated, may significantly improve the prognosis. Assessment of cardiac status because of the risk of cardiac impairment secondary to respiratory involvement Growth should be assessed regularly. [ncbi.nlm.nih.gov]
Worse prognosis has also been associated with respiratory insufficiency due to weakness of diaphragm and accessory respiratory muscles and/or thoracic deformities6. [scielo.br]
Most cases are inherited as autosomal dominant trait and associated with nonprogressive muscle disease and a favorable prognosis. Some cases are inherited as autosomal recessive traits and are more likely to be associated with severe complications. [rarediseases.org]
Prevention
Prevention of secondary complications: Yearly influenza and other respiratory infection-related immunizations. [ncbi.nlm.nih.gov]
Any surgical procedure, including dental surgery, must be performed in a setting that is well monitored by anesthesiologists with necessary precautions to help prevent or appropriately manage a possible malignant hyperthermic event. [rarediseases.org]