Vacuolar Myopathy with Type 2 A Fiber Atrophy and Type 2 B Fiber Deficiency

Matsuishi, Toyojiro; Terasawa, Kenjiro; Yoshida, Ikumi; Yano, Eiji; Yamashita, F; Hidaka, Toshihiro; Ishihara, Osamu; Yoshino, Makoto; Nonaka, Ikuya; Kurokawa, Tsuyoshi; Nakamura, Yasuhide

doi:10.1055/s-2008-1059618

Cited by 6 publications

(2 citation statements)

References 7 publications

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“…Until recently, fatigue in Pompe disease did not receive much attention and was not structurally assessed. Incidentally fatigue had been reported in case reports and small patient populations of up to 16 subjects [20, 62, 65, 85, 105]. In a study on the natural course of Pompe disease in 54 patients, fatigue was rather unexpectedly reported to be the presenting symptom in 25% of the patients [43].…”

Section: Fatigue In Pompe Diseasementioning

confidence: 99%

Fatigue in neuromuscular disorders: focus on Guillain–Barré syndrome and Pompe disease

Vries

Hagemans

Bussmann

et al. 2009

Cell. Mol. Life Sci.

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Fatigue accounts for an important part of the burden experienced by patients with neuromuscular disorders. Substantial high prevalence rates of fatigue are reported in a wide range of neuromuscular disorders, such as Guillain–Barré syndrome and Pompe disease. Fatigue can be subdivided into experienced fatigue and physiological fatigue. Physiological fatigue in turn can be of central or peripheral origin. Peripheral fatigue is an important contributor to fatigue in neuromuscular disorders, but in reaction to neuromuscular disease fatigue of central origin can be an important protective mechanism to restrict further damage. In most cases, severity of fatigue seems to be related with disease severity, possibly with the exception of fatigue occurring in a monophasic disorder like Guillain–Barré syndrome. Treatment of fatigue in neuromuscular disease starts with symptomatic treatment of the underlying disease. When symptoms of fatigue persist, non-pharmacological interventions, such as exercise and cognitive behavioral therapy, can be initiated.

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Section: Fatigue In Pompe Diseasementioning

confidence: 99%

Fatigue in neuromuscular disorders: focus on Guillain–Barré syndrome and Pompe disease

Vries

Hagemans

Bussmann

et al. 2009

Cell. Mol. Life Sci.

View full text Add to dashboard Cite

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“…Two suggested definitions are ‘extreme and persistent tiredness, weakness or exhaustion-mental, physical or both’ [ 6 ] and ‘difficulty in initiation of or sustaining voluntary activities’ [ 3 ]. Although fatigue is a frequent symptom in many chronic disorders, it has received little attention in Pompe disease and was only sporadically reported [ 4 , 20 , 23 , 27 , 32 ]. In a recent study on the clinical condition of late-onset Pompe patients we found that 76% of the study population reported symptoms of fatigue and that fatigue was among the first complaints for 24% [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Fatigue: an important feature of late-onset Pompe disease

et al. 2007

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Objective To investigate the prevalence and severity of fatigue in adult patients with Pompe disease. Methods The Fatigue Severity Scale (FSS) was assessed in an international population of 225 adults with Pompe disease, a metabolic disorder presenting as a slowly progressive proximal myopathy. The FSS scores were compared to those of healthy controls and the relationship between the level of fatigue and other patient characteristics was investigated. Results The mean age of the participants was 47 (SD 13) years and the mean disease duration 11 (SD 8) years. 43% used a wheelchair and 46% had respiratory support, 29% needed both. 67% of the participants had a FSS score ≥5, indicating severe fatigue. The mean FSS score was 5.2 (SD 1.5), which was significantly higher than that of healthy controls (p < 0.001). Fatigue was not related to age, sex or disease duration. Patients who used a wheelchair or respiratory support were on average more fatigued than those who did not (p = 0.01). However, of the patients who did not use these aids, 59% also had a FSS score ≥5. FSS scores were highest among patients who reported a high frequency of sleep disorders, but patients who never experienced sleep difficulties were also fatigued (mean FSS score = 4.8). Conclusion Fatigue is highly prevalent among both mildly and severely affected adult patients with Pompe disease. The FSS appears a useful tool in assessing fatigue in Pompe disease.

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Myopathies due to enzyme deficiencies

Cornelio

DiDonato

1985

J Neurol

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After the discovery in 1959 of myophosphorylase deficiency, at least 15 myopathies due to deficiency of enzymes involved in energy substrate utilization have been described. In this review two main categories of enzymopathies, glycogenosis and mitochondrial disorders, are discussed. Clinically, the patients with these categories of enzyme defects present two major syndromes: acute recurrent muscle impairment, generally related to exercise, associated with cramps and/or myoglobinuria; progressive muscular weakness and wasting eventually associated with signs of affected organs other than skeletal muscle. Defects of glycogen breakdown and of the first step of glycolysis are more frequently associated with acute exercise intolerance, such as in myophosphorylase and phosphofructokinase deficiencies, but may be associated with progressive muscle weakness and wasting, such as in acid maltase and debrancher enzyme deficiency. Clinical heterogeneity is common in these disorders, but a biochemical explanation for their different clinical expression is still lacking. Defects of the second step of glycolysis, phosphoglycerate kinase, phosphoglycerate mutase and lactate dehydrogenase deficiencies, have been discovered recently and are associated with exercise intolerance. The reason for muscle weakness and atrophy in glycogenosis is still unclear, although it has been suggested that excessive protein catabolism occurs in myophosphorylase, debrancher and acid maltase deficiencies. Myopathies due to deficiencies of mitochondrial enzymes are less well defined, as a group, than the glycogenoses. They are currently considered to fall into three main groups: defects of substrate utilization, such as carnitine palmitoyltransferase deficiency; defects of respiratory chain complexes, such as cytochrome-c-oxidase deficiency and defects of phosphorylation-respiration coupling, such as Luft's disease. Again, severe and benign exercise intolerance or progressive life-threatening myopathic syndromes may be the clinical expression of these disorders. Detailed biochemical and morphological studies of muscle biopsies are needed in these patients to obtain a definite diagnosis and prognosis, and to decide on eventual treatment.

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Vacuolar Myopathy with Type 2 A Fiber Atrophy and Type 2 B Fiber Deficiency

Cited by 6 publications

References 7 publications

Fatigue in neuromuscular disorders: focus on Guillain–Barré syndrome and Pompe disease

Fatigue in neuromuscular disorders: focus on Guillain–Barré syndrome and Pompe disease

Fatigue: an important feature of late-onset Pompe disease

Myopathies due to enzyme deficiencies

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