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Distrofias associadas ao colagénio VI: discussão de um caso clínico
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Authors
Abstract(s)
As Distrofias associadas ao Colagénio VI constituem um subgrupo de Distrofias
Musculares Congénitas raras. O colagénio VI é uma glicoproteína expressa na matriz
extracelular, essencial para o normal funcionamento dos tecidos, nomeadamente tecido
musculo esquelético e conjuntivo (pele e tendões). Este espectro associa-se a variantes
clinicamente relevantes nos genes do colagénio VI (COL6A1, COL6A2 ou COL6A3) que
resultam num défice de produção ou função do colagénio VI. As manifestações típicas
são fraqueza muscular, hiperlaxidez distal, contraturas articulares e manifestações
cutâneas, que refletem o défice de colagénio VI. Estas distrofias apresentam um espetro
clínico, que pode variar de uma forma mais ligeira e mais tardia, conhecida como
Miopatia de Bethlem, formas intermédias, até uma forma mais grave e mais precoce,
denominada Distrofia Muscular Congénita de Ullrich. A suspeita diagnóstica pode ser
confirmada molecularmente com a identificação de uma alteração patogénica num dos
genes COL6A1, COL6A2 ou COL6A3. Normalmente, não há envolvimento cardíaco.
Atualmente não existe uma cura definitiva para este grupo de patologias, no
entanto, com a crescente evolução da genética e da ciência em geral, há uma maior
esperança e interesse no desenvolvimento de novas técnicas terapêuticas, bem como
novos alvos.
Apresenta-se um caso clínico de uma criança, do sexo masculino, com três anos
de idade, filho de pais consanguíneos (1/32), com diagnóstico clínico e molecular de
Distrofia Muscular Congénita de Ullrich. O paciente apresenta hipotonia de início no
período neonatal, hiperlaxidez das articulações distais, luxação bilateral da anca e do
cotovelo esquerdo, envolvimento cutâneo, na forma de hiperqueratose folicular e atraso
no desenvolvimento global.
Com a presente revisão bibliográfica pretende-se reunir a informação mais
atualizada sobre os aspetos mais relevantes relacionados com as Distrofias do
Colagénio VI e apresentar um caso clínico da patologia em questão.
Collagen VI Associated Dystrophies constituted a subgroup of rare Congenital Muscular Dystrophies. Collagen VI is a glycoprotein expressed in the extracellular matrix, essential for the normal functioning of tissues, namely musculoskeletal and connective tissue (skin and tendons). This is associated with specific pathogenic variants in collagen VI genes (COL6A1, COL6A2 COL6A3) or results in a deficit in collagen VI production or function. Typical manifestations are muscle weakness, distal hyperlaxity, contractures and joint manifestations, noting collagen VI deficiency. Dystrophies have a clinical spectrum, which can range from a milder and later form, known as Bethlem Myopathy, intermediate forms, to a more severe and earlier form, called Ullrich Congenital Muscular Dystrophy. A suspected diagnosis can be confirmed molecularly with an identification of a pathogenic change in one of the COL6A1, COL6A2 or COL6A3 genes. There is usually no cardiac involvement. There is currently no definitive cure for this group of pathologies, however, with the evolution of genetics and science in general, there is greater hope and interest in the development of new therapeutic techniques, as well as new targets. We present a clinical case of a three-year-old male child of consanguineous parents (1/32), with a clinical and molecular diagnosis of Ullrich's Congenital Muscular Dystrophy. The patient's initial presentation in the neonatal period, bilateral hyperlaxity, distal changes, left elbow dislocation, skin involvement in the form of follicular hyperkeratosis and global developmental delay. With a bibliographic review presented, we intend to gather the most up-to-date information on the most relevant aspects related to Collagen VI Dystrophies and present a clinical case of the pathology.
Collagen VI Associated Dystrophies constituted a subgroup of rare Congenital Muscular Dystrophies. Collagen VI is a glycoprotein expressed in the extracellular matrix, essential for the normal functioning of tissues, namely musculoskeletal and connective tissue (skin and tendons). This is associated with specific pathogenic variants in collagen VI genes (COL6A1, COL6A2 COL6A3) or results in a deficit in collagen VI production or function. Typical manifestations are muscle weakness, distal hyperlaxity, contractures and joint manifestations, noting collagen VI deficiency. Dystrophies have a clinical spectrum, which can range from a milder and later form, known as Bethlem Myopathy, intermediate forms, to a more severe and earlier form, called Ullrich Congenital Muscular Dystrophy. A suspected diagnosis can be confirmed molecularly with an identification of a pathogenic change in one of the COL6A1, COL6A2 or COL6A3 genes. There is usually no cardiac involvement. There is currently no definitive cure for this group of pathologies, however, with the evolution of genetics and science in general, there is greater hope and interest in the development of new therapeutic techniques, as well as new targets. We present a clinical case of a three-year-old male child of consanguineous parents (1/32), with a clinical and molecular diagnosis of Ullrich's Congenital Muscular Dystrophy. The patient's initial presentation in the neonatal period, bilateral hyperlaxity, distal changes, left elbow dislocation, skin involvement in the form of follicular hyperkeratosis and global developmental delay. With a bibliographic review presented, we intend to gather the most up-to-date information on the most relevant aspects related to Collagen VI Dystrophies and present a clinical case of the pathology.
Description
Keywords
Colagénio VI Contraturas Articulares Distrofia Muscular Congénita de Ullrich Hiperlaxidez Distal Miopatia de Bethlem