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1. 筋強直性ジストロフィー：治療と予後myotonic dystrophy treatment and prognosis [show details]
… The systemic (non-neuromuscular) manifestations of DM are the most treatable aspects of the disease.… Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are autosomal dominant,…
2. 筋強直性ジストロフィー：病因、臨床的特徴、および診断myotonic dystrophy etiology clinical features and diagnosis [show details]
…identification of its genetic basis, DM2 went by various names, including proximal myotonic myopathy (PROMM) and proximal myotonic dystrophy (PDM) . These terms underscore the fact that weakness in the hip girdle …
3. 眼瞼下垂症の概要overview of ptosis [show details]
…Muscle disorders featuring ptosis include mitochondrial disease, oculopharyngeal dystrophy, and myotonic dystrophy. Disorders of mitochondrial function may involve the muscles of the eyes and eyelids producing …
4. 心疾患関連する遺伝性症候群inherited syndromes associated with cardiac disease [show details]
… due to the deposition of amyloid fibrils is seen in familial AC and TTR amyloidosis, as well as in non-genetic disease (eg, senile TTR amyloidosis). These conditions are discussed separately. Fabry disease… Myotonic dystrophy (also called dystrophia myotonica [DM]) is a multisystem disease with autosomal…
5. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要overview of peripheral nerve and muscle disorders causing hypotonia in the newborn [show details]
… The classic form of myotonic dystrophy has its onset in adolescence or adulthood. The congenital form of the disease occurs in infants born to mothers with myotonic dystrophy. Patients may present with…

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