glycogen and Scoliosis

Pompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been learned about the phenotypic spectrum especially in the late onset patients. We describe in detail 44 patients diagnosed with late-onset Pompe disease (LOPD) at our neuromuscular department from 1985 to 2011 and compare them to patients with LOPD in the literature of the past 40 years. Study of the Munich LOPD group revealed varying musculoskeletal and cardio-cerebrovascular manifestation patterns. Several of these symptom patterns commonly appeared in conjunction with one another, highlighting the multisystem involvement of this condition. Common symptom patterns include: (i) Classic limb girdle and diaphragmatic weakness, (ii) rigid spine syndrome (RSS), scoliosis, and low body mass, and (iii) several cardio-cerebrovascular manifestation patterns. The most common presentation, limb girdle and diaphragmatic weakness, appeared in 78% (34/44) of our patients and over 80% of those in the literature. Sixteen percent (7/44) of our patients presented with rigid spine, scoliosis, and low body mass. Although scoliosis had a reported frequency of 33% in the general LOPD patient population, the literature only occasionally reported low body mass and RSS. Importantly, a multisystem extramuscular finding accompanied by cardio-cerebrovascular manifestations was found in 29% (13/44) of our LOPD patients; the literature showed an increasing prevalence of this latter finding. By examining the phenotype of patients with confirmed LOPD, we found a more subtle clinical multisystem involvement in LOPD. Whether patients presenting with the different symptom patterns respond differently to enzyme replacement therapy remains a key question for future research. © 2012 Wiley Periodicals, Inc.

Topics: Adolescent; Adult; Age of Onset; Aged; Cardiovascular Abnormalities; Cerebrovascular Disorders; Child; Female; Glycogen; Glycogen Storage Disease Type II; Humans; Male; Mallory Bodies; Middle Aged; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Musculoskeletal Abnormalities; Phenotype; Scoliosis

Adolescent patients with idiopathic scoliosis were treated with long-term electrical stimulation (30 Hz) at the posterior axillary line on the convex side of the curvature in order to correct the spinal deformity. The patients were also followed with muscle biopsies from the latissimus dorsi of the stimulated side taken before, after 3 and 6 months of electrical stimulation. There was a tendency for an increase in the percentage of type I and especially the type II C (undifferentiated) fibers after stimulation. The mean muscle fiber area and the fiber areas of the various fiber types did not change significantly. Histopathological findings were generally rare before as well as after 3 months of electrical stimulation, the only noticeable finding being a somewhat increased frequency of atrophic fibers in groups after 6 months of stimulation. In all studied patients the enzymatic activity of citrate synthase increased after 3 months and further in three studied patients after 6 months of stimulation. The present study gives some evidence of an adaptive process caused by electrical stimulation towards a more fatigue-resistant muscle.

Topics: Adenylate Kinase; Biopsy; Child; Citrate (si)-Synthase; Electric Stimulation Therapy; Enzymes; Female; Glyceraldehyde-3-Phosphate Dehydrogenases; Glycogen; Humans; L-Lactate Dehydrogenase; Long-Term Care; Male; Muscle Proteins; Muscles; Scoliosis

The gluteus maximus and paraspinal muscles in 15 cases of idiopathic scoliosis at the apex of the curve showed myopathic changes and a significant decrease in the type II fibers. Fiber type II atrophy was observed only on the concave side. Ultrastructure of paraspinal and gluteus muscle biopsies showed disruption of myofilaments, Z band streaming and subsarcolemmal accumulation of glycogen, lipid and mitochondria. Quantitative estimation of these subcellular organelles pointed out that a higher glycogen content was significant in both paraspinal as well as the gluteus muscles while a higher mitochondrial content was significant only on the convex side and the gluteus muscle but not the concave side of the apex when compared to normal quadriceps muscle. These findings suggest that idiopathic scoliosis is a diffuse disease process and may be considered a primary muscle disease.

Topics: Adolescent; Anthropometry; Back; Buttocks; Child; Female; Glycogen; Histocytochemistry; Humans; Lipid Metabolism; Male; Mitochondria, Muscle; Muscles; Scoliosis; Vacuoles

Glycogen storage disease due to amylo-1,6-glucosidase deficiency was diagnosed in a 21-year-old patient. The enzyme defect was demonstrated by biochemical analysis of muscle tissue, the glycogen content of which was typically increased. Investigation of the patient's kindred showed that his 25-year-old sister was also affected. This report sets out to show that in adolescence and in adult life myopathy may be the leading symptom of the disease. Besides the clinical symptoms of muscle weakness and stiffness, an increase in serum creatine kinase usually is found. While an increase in the glycogen content of skeletal muscle has been known since the first description of this glycogen storage disease, it was believed that the glycogen deposits do not cause a clinically relevant disturbance of muscle function. A review of the literature and our own observations show that this assumption has to be at least partially revised. In patients with unclear myopathy who had hepatomegaly during childhood the possibility of glycogenosis due to amylo-1,6-glucosidase deficiency should be considered, especially if symptoms of hypoglycemia are reported. In the patient as well as in his sister marked kyphoscoliosis was present. Whether there is a connection between skeletal deformity and enzyme defect cannot be determined as the patients were available for further studies.

Topics: Adult; Glucan 1,4-alpha-Glucosidase; Glucosidases; Glycogen; Glycogen Storage Disease; Humans; Kyphosis; Male; Muscle Hypotonia; Muscles; Scoliosis

Topics: Adolescent; Adult; Child; Female; Glycogen; Histocytochemistry; Humans; Male; Microscopy, Electron; Muscles; Scoliosis; Spine

Topics: Adolescent; Cytoplasm; Female; Fructose-Bisphosphate Aldolase; Glycogen; Humans; L-Lactate Dehydrogenase; Lactates; Muscles; Scoliosis

Topics: Adolescent; Adult; Back; Child; Female; Glycogen; Histocytochemistry; Humans; Male; Microscopy, Electron; Mitochondria, Muscle; Muscles; Myofibrils; Sarcoplasmic Reticulum; Scoliosis