{"id":15266,"date":"2018-09-26T21:15:13","date_gmt":"2018-09-26T13:15:13","guid":{"rendered":"https:\/\/hksnmd.org\/%e9%9d%9e%e9%80%b2%e8%a1%8c%e6%80%a7%e5%85%88%e5%a4%a9%e6%80%a7%e8%82%8c%e8%82%89%e7%97%85%e8%ae%8a\/"},"modified":"2023-03-24T16:24:34","modified_gmt":"2023-03-24T08:24:34","slug":"congenital-myopathy","status":"publish","type":"page","link":"https:\/\/hksnmd.org\/en\/neuromuscular-diseases\/congenital-myopathy\/","title":{"rendered":"Congenital Myopathy"},"content":{"rendered":"\t\t
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What is Congenital Myopathy? <\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Congenital myopathy (CM) is a group of rare hereditary muscle diseases caused by underlying genetic mutations. \u2018Congenital\u2019 means early onset of symptoms that either at birth, during infancy or childhood age.<\/p>\n

The major presenting symptoms are muscle weakness and hypotonia. More severely affected infants may appear weak and floppy, and frequently also have breathing difficulty and feeding and swallowing problems. These infants\u2019 motor milestones are delayed, and they often cannot roll over or sit up at the expected time. Facial muscle weakness and limitation of eye movement are also common. For children or individuals who are only mildly affected, weakness mainly affects the muscles of the proximal shoulder and hip girdles; when performing motor activities such as raising arms, getting up from squatting, going up and down stairs, or fast walking, they may easily feel tired or exhausted. Some affected children or individuals also have musculoskeletal problems such as scoliosis, hip subluxation and dislocation, and contractures and deformities of other joints. Sometimes, due to breathing muscle weakness, they also have breathing difficulties.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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How are Congenital Myopathies diagnosed?<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Your doctor will take a detailed history asking you about the onset of your child\u2019s symptoms and how the disease has progressed over time. If your child is suspected to have congenital myopathy, further testing will be needed to confirm the diagnosis. Muscle enzymes (Creatine Kinase level) will be checked and electromyography study will be arranged. Muscle biopsies provide helpful clues on the possible subtype of congenital myopathy to guide the genetic testing.<\/p>\n

Based on the muscle biopsy findings, the congenital myopathy can be classified into different subtypes. The more common subtypes are:<\/p>\n