Pérez-Arzola Alan Alberto, Juárez-Melchor Daniela, Crisanto-López Israel Enrique, Vera-Loaiza Aurea, Hernández-Castañeda Yazmin, Guzmán-Santiago Tania Alejandra, Jiménez-Pérez Berenice, Rodríguez-Hurtado Pablo Omar, Salazar-Bonilla Wilbert
Instituto Mexicano del Seguro Social, Hospital General de Zona No. 20 "La Margarita". Servicio de Genética Médica. Puebla, Puebla, México.
Instituto Mexicano del Seguro Social, Unidad de Medicina Familiar No. 55, Servicio de Medicina Familiar. Puebla, Puebla, México.
Rev Med Inst Mex Seguro Soc. 2025 Jan 3;63(1):e6447. doi: 10.5281/zenodo.14201220.
The autosomal recessive limb-girdle muscular dystrophy-10 (LGMDR10) is a muscular dystrophy caused by pathogenetic variants in the TTN gene encoding the titin protein, which is responsible for muscle flexibility and tension. Its prevalence is unknown. The main clinical manifestations are proximal muscle weakness predominantly in the shoulder girdle and pelvic girdle, mild weakness of distal muscles and muscle atrophy. The objective is to present a case report of autosomal recessive limb-girdle muscular dystrophy-10 in a Mexican patient.
39-year-old male with hypotrophy of the left leg, muscle weakness of the 4 limbs predominantly proximal and asymmetrical, myalgia and nocturnal cramps. Total creatine phosphokinase level was of 819.7 IU/L, nerve conduction velocity and electromyography with left femoral neuropathy of the axonotmesis type and mixed axonal neuropathy with myopathic pattern of upper limbs. The molecular study for muscular dystrophies reported 2 pathogenic variants in compound heterozygous state in the TTN gene: c.107578C>T (p. Gln37860*) and c.104269C>T (p. Gln34767*), respectively.
In line with the information available, there are no reported cases of LGMDR10 in Mexico. This is a progressive disease with total loss of ambulation between the fourth and the sixth decade of life, which is why its clinical suspicion is important for a timely diagnosis, an adequate counseling, and preventive measures of complications for a better quality of life.
常染色体隐性遗传性肢带型肌营养不良10型（LGMDR10）是一种由编码肌联蛋白的TTN基因突变导致的肌营养不良症，肌联蛋白负责肌肉的柔韧性和张力。其患病率尚不清楚。主要临床表现为近端肌无力，主要累及肩胛带和骨盆带，远端肌肉轻度无力及肌肉萎缩。目的是报告一例墨西哥患者的常染色体隐性遗传性肢带型肌营养不良10型病例。
一名39岁男性，左腿萎缩，四肢肌无力，以近端为主且不对称，伴有肌痛和夜间痉挛。总肌酸磷酸激酶水平为819.7 IU/L，神经传导速度及肌电图显示左股神经为轴索性神经损伤，上肢为混合性轴索性神经病变伴肌病样改变。肌肉营养不良症的分子研究报告显示，TTN基因存在2种复合杂合状态的致病变异：分别为c.107578C>T（p.Gln37860*）和c.104269C>T（p.Gln34767*）。
根据现有信息，墨西哥尚无LGMDR10的病例报告。这是一种进行性疾病，在生命的第四个和第六个十年之间会完全丧失行走能力，因此临床怀疑对于及时诊断、充分咨询以及预防并发症以提高生活质量非常重要。
