Modification of the natural history of adult‐onset acid maltase deficiency by nutrition and exercise therapy

Slonim, Alfred E.; Bulone, Linda; Goldberg, Teresia; Minikes, Jennifer; Slonim, Efrat; Galanko, Joseph A.; Martiniuk, Frank

doi:10.1002/mus.20665

Cited by 107 publications

(131 citation statements)

References 31 publications

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“…Disease severity was assessed using the modified Walton scale. 14 The neurologists who collected the clinical data (S.R., B.B., F.G.) were unaware of ACE polymorphism status.…”

Section: Patientsmentioning

confidence: 99%

“…We compared the distribution of the ACE genotypes in relation to the following parameters: sex; age; age of onset of the disease (i.e., patients were invariably asked about the onset of motor/respiratory difficulties in running/climbing stairs and/or rising from a chair); disease duration (from the above symptoms onset to actual age); serum creatine kinase (CK) levels, both at the time of diagnosis and at the latest follow-up (in view of the retrospective nature of our study, the information about CK levels at diagnosis was unavailable in 3 of 38 cases); severity of the disease, using the modified Walton scale 14 ; presence of scoliosis; symptoms of fatigue, as assessed by the Fatigue Severity Scale 17 ; presence of muscle pain, as assessed by a Visual Analogic Scale (only pain at rest/during exercise was considered, whereas pain related to muscle cramps/fatigue was excluded); body mass index (BMI); 6-minute walking test (6MWT); signs of fatigue during the 6MWT, defined as oxygen desaturation Ն5% or heart rate increase Ն20%; vital capacity, expressed both as percentage and in liters; and range of disease manifestations, with annotation of prevalence of respiratory versus muscular involvement or lack of a prevailing pattern.…”

Section: Analysis Of Clinical Featuresmentioning

confidence: 99%

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The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Filippi

Ravaglia

Bembi

et al. 2010

Genetics in Medicine

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Purpose:The insertion/deletion polymorphism of angiotensin-converting enzyme may influence muscle properties. We examined whether Pompe disease clinical manifestations, which are known to be highly variable among late-onset patients, may be modulated by angiotensinconverting enzyme polymorphism. Methods: We included 38 patients with late-onset Pompe disease, aged 44.6 Ϯ 19.8 years. We compared the distribution of angiotensin-converting enzyme polymorphism according to demographic and disease parameters. Results: The distribution of angiotensin-converting enzyme polymorphism was in line with the general population, with 16% of patients carrying the II genotype, 37% carrying the DD genotype, and the remaining patients with the ID genotype. The three groups did not differ in mean age, disease duration, Walton score, and other scores used to measure disease severity. The DD polymorphism was associated with earlier onset of disease (P ϭ 0.041), higher creatine kinase levels at diagnosis (P ϭ 0.024), presence of muscle pain (P ϭ 0.014), and more severe rate of disease progression (P ϭ 0.037, analysis of variance test for interaction). Discussion: These findings suggest a potential role of angiotensin-converting enzyme polymorphism in modulating Pompe disease phenotype and prognosis. Genet Med 2010:12(4):206 -211.

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“…Disease severity was assessed using the modified Walton scale. 14 The neurologists who collected the clinical data (S.R., B.B., F.G.) were unaware of ACE polymorphism status.…”

Section: Patientsmentioning

confidence: 99%

Section: Analysis Of Clinical Featuresmentioning

confidence: 99%

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Filippi

Ravaglia

Bembi

et al. 2010

Genetics in Medicine

View full text Add to dashboard Cite

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“…Solium et al reported 2 out of 34 patients with acute onset respiratory insufficiency as the initial symptom 5 . Respiratory involvement may be more severe than skeletal muscle involvement 4 .…”

Section: Discussionmentioning

confidence: 99%

Visual Hallucinations in a Patient with Adult Onset Acid Maltase Deficiency Disorder

Patil

DePriest

2009

J GEN INTERN MED

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A 66-year-old male presented with visual hallucinations. He had chronically elevated serum creatine kinase (CK) levels without muscle weakness. His hospital course was complicated by hypercapnic respiratory failure requiring mechanical ventilation. His hallucinations completely subsided on mechanical ventilation. Elevated CK levels prompted a muscle biopsy, which showed myopathy consistent with acid maltase deficiency disorder (AMDD). This is the first reported case of adult onset AMDD presenting with psychiatric symptoms. Our objective in reporting this case is to encourage early recognition of neuromuscular respiratory failure in AMDD and to reinforce that respiratory failure may develop without associated extremity muscle weakness. CASE NARRATIVEA 66-year-old male presented to his primary care physician's office with a three-week history of visual hallucinations and nightmares. The hallucinations had all occurred at night while in bed. The patient had a two-year history of depression marked by decreased appetite, inability to concentrate and memory problems. He was diagnosed as having depression with psychotic features and was admitted to the inpatient psychiatry service for further evaluation.The patient had minimal past medical history, significant only for hypertension and chronic, mildly elevated CK levels. This elevation in CK levels had been present for at least five years, with values generally ranging between 250-500 international units per liter (IU/L). An extensive workup had been performed to evaluate the cause of his elevated CK levels. He was not on any lipid lowering agents and his thyroid function was normal. His rheumatologic work-up, including antinuclear antibody, rheumatoid factor, anti-double stranded DNA, anti-centromere antibodies and erythrocyte sedimentation rate were all normal. His only symptoms were chronic minimal shortness of breath and fatigue, but he was still physically active. In fact the day prior to admission he had exercised on his treadmill. He had a remote history of smoking. He smoked 1-2 cigarettes for about five years and had quit about thirty years ago. There was no family history of inherited muscular disorders. His medications on admission to the hospital were nifedipine, metoprolol succinate, venlafaxine and eszopiclone. The eszopiclone had been prescribed recently for insomnia, but the patient had not been taking it, as he believed it was worsening his nightmares. On physical examination he was awake and alert. His body mass index was 23.3. Neurological examination revealed normal cranial nerves. Sensory and cerebellar systems were normal. The patient did have slight shoulder and pelvic girdle weakness but the distal muscles had good strength. Deep tendon reflexes and the plantar response were normal. The remainder of the physical exam was normal.Mental status exam revealed a blunted affect but an appropriate thought process that was goal directed, logical and coherent without tangentiality or loosening of association. He admitted to visual hallucinations but den...

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“…A sum score ranging from 0 to 40 was calculated for each patient by bilateral examination of shoulder abductors, elbow flexors, hip flexors and knee extensors. The stage of the disease was assessed by the modified Walton scale [3]. Pulmonary function was assessed by spirometry in the upright and supine position, and the maximum value of three reproducible tests was assessed for analysis.…”

Section: Methods and Resultsmentioning

confidence: 99%

Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis

Papadimas¹,

Spengos²,

Papadopoulos³

et al. 2011

Eur Neurol

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Background/Aims: Glycogen storage disease type II (GSD-II) is a lysosomal disorder caused by acid α glucosidase (GAA) deficiency. The infantile form is easier to recognize compared with the milder adult form that may manifest as myopathy without specific clinical characteristics. The aim of this study is to highlight frequent diagnostic errors in adult GSD-II patients. Case Reports: We report four patients with confirmed GSD-II who were at first diagnosed with hypothyroid myopathy, connective tissue disorder, an underlying liver disease and muscular dystrophy, respectively. Conclusion: Internists but even neurologists with low suspicion may misdiagnose GSD-II. The early respiratory involvement and the characteristic laboratory abnormalities in a myopathic patient should include GAA deficiency in the differential diagnosis especially in the era of enzyme replacement therapy.

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Modification of the natural history of adult‐onset acid maltase deficiency by nutrition and exercise therapy

Cited by 107 publications

References 31 publications

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Visual Hallucinations in a Patient with Adult Onset Acid Maltase Deficiency Disorder

Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis

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