Muscular Dystrophy and Central Nervous System

intronic mutations in

Muscular Dystrophies

2008;9:572

28(3):264-268

dystrophinopathies. BMC Genomics.

[99] Kolski HK, Hawkins C, Zatz M, de Paula F, Biggar D, Alman B, et al. Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. Neuropathology. 2008;

[100] Groen EJ, Charlton R, Barresi R, Anderson LV, Eagle M, Hudson J, et al. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

[101] Lanzillo R, Aurino S, Fanin M, Aguennoz M, Vitale F, Fiorillo C, et al. Santoro early onset calpainopathy with normal non-functional calpain 3 level. Developmental Medicine and Child Neurology. 2006;48(4):304-306

[102] Fanin M, Nascimbeni A, Fulizio L, Trevisan CP, Meznaric-Petrusa M, Angelini C. Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. The American Journal of Pathology.

[103] Fanin M, Nascimbeni AC, Angelini

C. Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy typ. 2B and 2E. Neuromuscular Disorders.

Brain. 2007;130:3237-3249

2003;163:1929-1933

2006;16:792-799

32

**35**

**Chapter 3**

**Abstract**

*Yukihiko Ueda*

cognitive function

**1. Introduction**

medical compliance and the QOL.

**2. QOL of patients with muscular dystrophy**

Cognitive Function and Quality of

Duchenne muscular dystrophy and myotonic dystrophy are genetic, progressive muscle diseases. These muscular dystrophies, which are currently incurable, cause muscle wasting or muscle weakness and decrease patients' quality of life. In addition to muscular impairments, cognitive impairments are also reported in both Duchenne muscular dystrophy and myotonic dystrophy. Cognitive impairments in each type of muscular dystrophy are different and closely related to psychosocial variables and the quality of life of the patients. We reviewed the features of cognitive functions in each type of muscular dystrophy and their correlations with the quality of life of patients. Based on the findings, we have suggested effective interventions for improving the quality of life of muscular dystrophy patients.

**Keywords:** Duchenne muscular dystrophy, myotonic dystrophy, quality of life,

clinical forms, all of which have an early onset and are incurable with current medical technology. These diseases severely decrease motor functions and make it difficult to live an independent social life or engage in an occupation. In this decade, the life span of muscular dystrophy patients has improved considerably as a result of improvements to ventilators. Therefore, it has become necessary to help patients maintain their quality of life (QOL) throughout the life span. Furthermore, muscular dystrophy causes not only physical impairments but also cognitive impairments [1]. Such cognitive impairments are associated with difficulties in communicating with medical workers and family members and also affect

Muscular dystrophy is a genetic, progressive disease of the muscles with several

Muscular dystrophy has an early onset, and thereafter body functions decrease progressively beginning with a decrease in motor functions that require the use of a wheelchair to maintain mobility and a decrease in the breathing function that require a ventilator to maintain breathing, which makes the patients bedridden. As a result, the patients' behavior repertoire becomes severely restricted, and they require considerable assistance. Netterlund et al. investigated activities of daily living (ADL) and the QOL of 45 people (mean age 44 years) with muscular

Life of Muscular Dystrophy
