DNM1L encodes dynamin-related protein 1 (DRP1), a multi-domain GTPase essential for mitochondrial and peroxisomal division. Autosomal dominant and recessive variants in DNM1L cause encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1), which presents as a complex and clinically heterogeneous neurological disorder of variable severity, often accompanied by seizures. Clinical features are diverse, and no clear phenotype-genotype correlations were drawn to date. DNM1L-related sensory neuropathy has recently been reported as a predominant feature in one case with a de novo variant in the GTPase domain. Herein we present a second case with DNM1L-related sensory neuropathy as the predominant underlying feature without motor neuron involvement, which resulted in severe muscular atrophy and generalized dystonia.

DNM1L编码动力相关蛋白1（DRP1），这是线粒体和过氧化物酶体分裂所必需的多域GTP酶。DNM1L的常染色体显性和隐性变异体由于线粒体和过氧化物酶体裂变1（EMPF1）缺陷而引起脑病，这是一种复杂且临床上异质的神经系统疾病，其严重程度不同，通常伴有癫痫发作。临床特征是多种多样的，并且迄今为止还没有明确的表型-基因型相关性。最近报道了与DNM1L相关的感觉神经病为在GTPase结构域中具有从头变异的一种情况下的主要特征。在这里，我们介绍DNM1L的第二种情况相关的感觉神经病为主要特征，无运动神经元受累，导致严重的肌肉萎缩和全身性肌张力障碍。