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  • Updated 11.08.2021
  • Released 01.13.2004
  • Expires For CME 11.08.2024

Collagen VI–related dystrophies: Ullrich congenital muscular dystrophy, Bethlem muscular dystrophy, and intermediate COL6-RD

Introduction

Overview

This article covers the collagen VI–related dystrophies. Ullrich congenital muscular dystrophy and Bethlem myopathy represent two ends of a clinical spectrum of disease defined as collagen VI–related myopathies. Intermediate COL6-RD clinically sits between these two entities. Both recessive and dominant mutations in the collagen VI genes COL6A1, COL6A2, and COL6A3 are responsible for the disease phenotype in this set of myopathic conditions.

Key points

• Both recessive and dominant mutations in the collagen VI genes COL6A1, COL6A2, and COL6A3 cause a spectrum of muscular dystrophies collectively termed “collagen.”

• Ullrich congenital muscular dystrophy (UCMD) is the severe clinical manifestation of collagen VI–related myopathic disorders.

• Bethlem myopathy is the milder form of this clinical collection of dystrophies. Intermediate COL6-RD has features in the center of the clinical spectrum of the collagen-VI related dystrophies.

Historical note and terminology

In 1930, Ullrich described a peculiar form of congenital muscular dystrophy with an unusual combination of distal hyperextensibility and proximal contractures in two boys; he termed the disorder “congenital atonic-sclerotic muscular dystrophy” (35; 36). Additional clinical findings were onset in the neonatal period or early infancy, which included generalized muscle weakness, hyperhidrosis, high-arched palate, protruded calcanei, and normal intelligence.

Ullrich congenital muscular dystrophy (MIM 254090) and Bethlem myopathy (MIM 158810) were originally described as separate entities, but demonstration of collagen VI gene mutations led to the concept of “collagen VI-related myopathies” as a group of conditions covering a broad clinical spectrum (19).

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