Autosomal recessive limb-girdle muscular dystrophy-10. Case report
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Keywords
Connectin, Muscular Dystrophies, Limb-Girdle, Muscle Weakness, Muscular Diseases
Abstract
Background: 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.
Clinical case: 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.
Conclusions: 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.
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Daniela Juárez-Melchor, <p>Instituto Mexicano del Seguro Social, Hospital General de Zona No. 20 “La Margarita”. Servicio de Genética Médica. Puebla, Puebla, México.</p>
Médico Cirujano y Partero egresada de la Benemérita Universidad Autónoma de Puebla. Especialidad en Genética Médica en el Hospital de Pediatría del Centro Médico Nacional siglo XXI/UNAM. Maestría en Ciencias Médicas e Investigación por la Benemérita Universidad Autónoma de Puebla. Médico Genetista y profesor Titular de la especialidad en Genética Médica en el Hospital General de Zona N° 20.