Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort

Autor(es)

Pasqualin, Livia M. A. ^[1] ; Reed, Umbertina C. ^[1] ; Costa, Thais V. M. M. ^[1] ; Quedas, Elisangela ^[2] ; Albuquerque, Marco A. V. ^[1] ; Resende, Maria B. D. ^[1] ; Rutkowski, Anne ^[3] ; Chadi, Gerson ^[1] ; Zanoteli, Edmar ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Sch Med, Dept Neurol, BR-05403000 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Sch Med, Dept Endocrinol, BR-05403000 Sao Paulo - Brazil

^[3] Cure CMD, Kaiser SCPMG, Olathe, KS - USA

• Tipo de documento: Artigo Científico
• Fonte: PEDIATRIC NEUROLOGY; v. 50, n. 4, p. 400-406, APR 2014.
• Citações Web of Science: 6

Resumo

BACKGROUND: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype. METHODS: Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene. RESULTS: All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support. Three of the patients manifested cardiac arrhythmias, and one demonstrated a neuropathic pattern on nerve conduction study. CONCLUSION: Although lamin A/C related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult. (AU)

• Processo FAPESP: 10/08902-5 - Estudo clínico, histológico e molecular de crianças com distrofia muscular congênita por deficiência de lamina A/C e FKRP
• Beneficiário: Umbertina Conti Reed
• Modalidade de apoio: Auxílio à Pesquisa - Regular