Therapeutic Options in Other Metabolic Myopathies

Abstract

Summary: Adult patients with metabolic myopathies typically present with exercise-induced pain, cramps, fatigue, and myoglobinuria. The current therapeutic options of glycogen and lipid storage myopathies include dietary treatments, excersise training, and pharmacological supplementations. Herein is a review of evidence from randomized controlled trials in McArdle disease (glycogen storage disease type V, muscle phosphorylase deficiency) and carnitine palmitoyltransferase (CPT) 2 deficiency. A brief overview on current treatment options in rhabdomyolysis is also included because patients with McArdle disease and CPT 2 often experience such potentially life-threatening complications. Key Words: McArdle disease, rhabdomyolysis, metabolic myopathy, carnitine palmitoyltransferase (CPT) 2 deficiency, glycogen storage disease, lipid storage disease.

Stem Cell Therapy in Muscle Degeneration

“…The majority of these cells seem to be directly involved in muscle regeneration, although some of these exert supportive effects on muscle fibres. The ideal cell candidate contributing to muscle regeneration (Table 3.1) should respect the following criteria: (1) to exist in humans, (2) to have a myogenic differentiation potential, (3) to exert migration ability, (4) to express homing abilities into areas of muscle degeneration, (5) to be easily accessible and expand under in vitro conditions and ( 6) to be genetically editable and suitable in autologous context.…”

Coaxing stem cells for skeletal muscle repair

“…There are other examples of metabolic diseases linked to defects in skeletal muscle including the McArdle syndrome. McArdle syndrome is caused by a mutation in the glycogen phosphorylase gene resulting in an inability to breakdown muscle glycogen which ultimately leads to rhabdomyolysis [1,2,8–12]. Therefore, skeletal muscle is a key target for therapy in metabolic diseases.…”

How would a completely homogeneous malignant hyperthermia susceptible sample be?

“…With the exception of metabolic diseases such as glycogen and lipid storage diseases, 8 there are no extensive clinical studies dealing with the possible effects of diet on clinical complaints like fatigue in neuromuscular disorders in general and MH in particular. This possibility could be a theme of future research in the field.…”