Hankey's Clinical Neurology, Second Edition

✍ Scribed by Giovanni Meola Affiliation: Dipartimento di Neurologia, Istituto Policlinico San Donato, Università di Milano, Via Morandi, 30, 20097 San Donato Milanese, Milano, Italy

• Publisher: CRC Press
• Year: 2014
• Tongue: English
• Leaves: 967
• Edition: 2
• Category: Library

✦ Synopsis

This review of myotonic dystrophies primarily concentrates on the clinical and genetic findings that can distinguish a novel form of myotonic dystrophy, myotonic dystrophy type 2 (DM2); proximal myotonic myopathy (PROMM); and proximal myotonic dystrophy (PDM) from myotonic dystrophy type 1 (DM1). The multisystemic nature of these disorders leads to a spectrum of symptoms and signs. Careful clinical evaluation of patients with DM2/PROMM shows that the similarities among the multisystemic myotonic disorders outweigh the differences. An important point in the comparison of the phenotypes of DM1 and DM2/PROMM is that no severe congenital type of DM2/PROMM has yet been described. Genetic linkage analyses show that myotonic dystrophies can be divided into three types: the conventional Steinert type linked to chromosome 19q13.3 (DM1); DM2/PROMM and PDM linked to chromosome 3q21.3; and families not linked to either chromosomal site. Although the diagnosis may be clinically suspected, it depends on DNA analysis. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1789-1799, 2000 Read more...

Abstract: This review of myotonic dystrophies primarily concentrates on the clinical and genetic findings that can distinguish a novel form of myotonic dystrophy, myotonic dystrophy type 2 (DM2); proximal myotonic myopathy (PROMM); and proximal myotonic dystrophy (PDM) from myotonic dystrophy type 1 (DM1). The multisystemic nature of these disorders leads to a spectrum of symptoms and signs. Careful clinical evaluation of patients with DM2/PROMM shows that the similarities among the multisystemic myotonic disorders outweigh the differences. An important point in the comparison of the phenotypes of DM1 and DM2/PROMM is that no severe congenital type of DM2/PROMM has yet been described. Genetic linkage analyses show that myotonic dystrophies can be divided into three types: the conventional Steinert type linked to chromosome 19q13.3 (DM1); DM2/PROMM and PDM linked to chromosome 3q21.3; and families not linked to either chromosomal site. Although the diagnosis may be clinically suspected, it depends on DNA analysis. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1789-1799, 2000