Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

作者: Gulcin Akinci , Haluk Topaloglu , Tevfik Demir , Ayca Ersen Danyeli , Beril Talim

DOI: 10.1016/J.NMD.2017.05.015

关键词:

摘要: Lipodystrophy is a heterogeneous group of disorders characterized by loss adipose tissue. Here, we report on clinical spectra neuromuscular manifestations Turkish patients with lipodystrophy. Seventy-four lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was common finding (67.4%) in lipodystrophic diabetes. Neuropathic foot ulcers observed 4 patients. Drop developed 1 patient congenital generalized type 1. Muscle symptoms hypertrophy consistent findings (21/21) familial partial (25/34); the other hand, overt myopathy elevated creatine kinase activity distinctive characteristic 4. biopsies revealed myopathic changes at different levels. Accumulation triglycerides which contributes to insulin resistance. All suffered from tight Achilles tendons various Scoliosis (2/2) 2 (2/17). Atlantoaxial instability unique (2/2). Bone cysts detected (7/10) (2/8). Our study suggests that lipodystrophies are associated wide spectrum abnormalities.

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