Résumé
Objective:To study the clinical, imaging and genetic characteristics of two Chinese families with oculopharyngeal muscular dystrophy (OPMD).Methods:The clinical data of the two families found in our hospital in August 2016 and May 2018 were analyzed. All the members were investigated in detail, and the clinical and imaging data of the probands were analyzed. Blood samples were collected from 22 members of the two families and PABPN1 gene analysis was performed. Results:There were 4 patients in family 1 with four generations and 4 patients in family 2 with three generations. The two probands presented ptosis, dysphagia at the age of 50 and 55. The proband of family 1 also showed diplopia, amyotrophy, weakness of proximal limbs, neurogenic changes in electromyogram (EMG), muscle fibers with rimmed vacuoles in muscle pathology, aspiration pneumonia in chest CT, and brainstem symmetric white matter lesions in cranial MR imaging. The proband of family 2 also showed eye muscle paralysis and lateral limb weakness, myogenic changes in EMG, bilateral parietal and right frontal lacunar infarctions in cranial MR imaging. Analysis of PABPN1 gene showed that the repeated mutation of PABPN1 trinucleotide (GCN) in 2 families was amplified from normal (GCG) 6(GCA) 3(GCG) to (GCG) 6(GCA) 3(GCG) 2(GCA) 3(GCG). Conclusion:OPMD has clinical heterogenicity; symmetrical white matter lesions in the brainstem might be found in cranial MR imaging; Chinese patients with OPMD have PABPN1 gene mutation, specificly manifested as (GCG) 6(GCA) 3(GCG) 2(GCA) 3(GCG) repeat mutations.
Résumé
Objective:To explore the phenotypic and genotypic characteristics of 3 Chinese families with dystrophinopathy, so as to provide the data for earlier diagnosis and therapy.Methods:The clinical, muscle pathology and electrophysiological data from the 3 families with dystrophinopathy were analyzed.The perpheral venous blood of 15 members from the 3 families was collected.Meanwhile, the known genes that were related to neuromyopathy were detected.Results:There were 8 patients in the 3 families.All the patients presented progressive weakness of extremities as the main manifestation, with elevated creatine kinase (CK) and myogenic changes in electrophysiological examination.The proband of family 1 was a 15 years old boy with 1 year history.He displayed limb weakness and accompanied with muscle pain after exercise.Muscle pathology only revealed denatured and atrophy muscle fibers, without necrosis and hyperplastic muscle fibers.The proband of family 2 was a 9 years old boy with 1 year history.His muscle pathology illustrated degeneration, necrosis, proliferation and lipid deposition muscle fibers.The proband of family 3 was a 16 years old boy with 10 years history.He exhibited generalized muscle atrophy, spine and chest deformity.His muscle pathology demonstrated classical muscular dystrophy changes.Gene detection gave information that deletion mutation in exons 45 to 47 of DMD gene in family 1 proband.c.2636 T> G mutation in exons 18 of DMD gene in family 2 proband, repeat mutation in exons 61 to 76 of DMD gene in family 3 proband; c.2636T>G was classified as pathogenic variation according to the guidelines for the interpretation of sequence variants of the American college of medical genetics and genomics guidelines. Conclusions:The phenotype of dystrophinopathy is related to genotype.A new mutation of DMD gene c. 2636T>G is discovered.Early patient with dystrophinopathy can only display pained weakness of muscle after exercise.Muscle pathology and gene detection should be performed as soon as possible.