Finsterer Josef, Soraru Gianni
Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria.
Department of Neurosciences, University of Padova, Padova, Italy.
J Mol Neurosci. 2016 Mar;58(3):321-9. doi: 10.1007/s12031-015-0663-x. Epub 2015 Oct 19.
Spinal and bulbar muscular atrophy (SBMA) is regarded as a disorder with adult onset between third and fifth decade of life. However, there is increasing evidence that SBMA may start already before adulthood. The present study investigated the following: (1) Which clinical manifestations have been described so far in the literature as initial manifestations? (2) Which was the age at onset of these manifestations? and (3) Is age at onset dependent on the CAG-repeat length if non-motor manifestations are additionally considered? Data for this review were identified by searches of MEDLINE using appropriate search terms. Onset manifestations in SBMA can be classified as frequent, rare, motor, non-motor, or questionable. Frequent are muscle weakness, cramps, fasciculations/twitching, tremor, dysarthria, dysphagia, or gynecomastia. Rare are myalgia, easy fatigability, exercise intolerance, polyneuropathy, hyper-CKemia, under-masculinized genitalia, scrotal hypospadias, microphallus, laryngospasm, or oligospermia. Questionable manifestations include sensory disturbances, cognitive impairment, increased pituitary volume, diabetes, reduced tongue pressure, elevated creatine-kinase, or low androgens/high estrogens. Age at onset is highly variable ranging from 4-76 years. Non-motor manifestations develop usually before motor manifestations. Age at onset depends on what is considered as an onset manifestation. Considering non-motor onset manifestations, age at onset is independent of the CAG-repeat size. In conclusion, age at onset of SBMA depends on what is regarded as onset manifestation. If non-motor manifestations are additionally considered, age at onset is independent of the CAG-repeat length. Since life expectancy is hardly reduced in SBMA, re-investigation of patients from published studies with regard to their initial disease profiles is recommended.
脊髓延髓肌肉萎缩症（SBMA）被认为是一种在成年期第三至第五个十年发病的疾病。然而，越来越多的证据表明，SBMA可能在成年之前就已开始。本研究调查了以下内容：（1）迄今为止，文献中描述的初始表现有哪些临床表现？（2）这些表现的发病年龄是多少？以及（3）如果额外考虑非运动表现，发病年龄是否取决于CAG重复长度？通过使用适当的检索词在MEDLINE中进行检索来确定本综述的数据。SBMA的发病表现可分为常见、罕见、运动性、非运动性或可疑。常见的有肌肉无力、痉挛、肌束震颤/抽搐、震颤、构音障碍、吞咽困难或男性乳房发育。罕见的有肌痛、易疲劳、运动不耐受、多发性神经病、高肌酸激酶血症、男性化不足的生殖器、阴囊尿道下裂、小阴茎、喉痉挛或少精子症。可疑表现包括感觉障碍、认知障碍、垂体体积增大、糖尿病、舌压降低、肌酸激酶升高或雄激素低/雌激素高。发病年龄变化很大，范围从4岁到76岁。非运动表现通常在运动表现之前出现。发病年龄取决于被视为发病表现的情况。考虑非运动性发病表现时，发病年龄与CAG重复大小无关。总之，SBMA的发病年龄取决于被视为发病表现的情况。如果额外考虑非运动表现，发病年龄与CAG重复长度无关。由于SBMA患者的预期寿命几乎没有降低，建议对已发表研究中的患者进行重新调查，了解他们最初的疾病概况。
