Inherited muscle disease

Abstract

The focus of this chapter will be to highlight some of the inherited disorders of muscle that can be associated with upper extremity involvement. Many of these disorders are marked by predominantly proximal muscle weakness which can affect arms and legs to varying extents during the progression of the disease, but this chapter will attempt to highlight more specific patterns of muscle involvement where known for the given muscle disease. This chapter will also provide information on the assessment of muscle in terms of functional assessments as well as imaging modalities. While no single approach should be universally applied when it comes to the management of such a heterogeneous group of disorders, this chapter will provide some general principles regarding the management of patients with inherited muscle diseases as it pertains to upper extremity function. While this chapter serves as a basic guide for clinicians as to the consideration and some management strategies, it should not be used to substitute the care of these patients in centers that have familiarity and the multidisciplinary capability to provide proper diagnostic workup, evaluation, and subsequently management of patients with various forms of inherited muscle diseases.