Wilbers J, Frants R R, van Engelen B G M, Padberg G W, van der Maarel S M
Afdeling Neurologie van het Universitair Medisch Centrum St Radboud, Nijmegen.
Ned Tijdschr Tandheelkd. 2010 Jan;117(1):11-4.
Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at the end of the long arm of chromosome 4. This contraction causes the local relaxation of the chromatin structure and likely dysregulation of one or more genes. Oral health care providers can play a significant role in the early recognition, as the often asymmetric facial weakness is frequently the first symptom. Adequate oral health care is needed because of the facial weakness.
面肩肱型肌营养不良症临床上主要表现为面部、肩部和上臂肌肉进行性无力。它是一种常染色体显性遗传病，由4号染色体长臂末端的重复DNA元件收缩引起。这种收缩导致染色质结构局部松弛，并可能使一个或多个基因失调。口腔保健提供者在早期识别中可发挥重要作用，因为面部肌无力通常不对称且常常是首发症状。由于面部肌无力，需要进行充分的口腔保健。
