More rarely, patients may present with a “rigid spine syndrome (RSS)”, as in other myopathic disorders. Facial and bulbar weakness are also present in LOPD patients. [ncbi.nlm.nih.gov]

In one patient, the disease presented with fatigue and an increased serum CK-level. [ojrd.biomedcentral.com]

• Weakness

  Symptoms of late-onset Pompe disease Muscle weakness, especially in the torso and legs, are often the first symptoms of late-onset Pompe disease. [pompediseasenews.com]

  In the latter, paradoxical breathing may be present reflecting advanced diaphragmatic weakness. [ncbi.nlm.nih.gov]

• Fatigue

  It is not uncommon for patients to experience muscle aches and cramps, as well as headaches and fatigue. [pompediseasenews.com]

  Decreased pulmonary function may also contribute to the level of fatigue. In conclusion, the combination of muscle aches, fatigue, exercise intolerance and/or hyperCKemia may constitute a presymptomatic stage of LOPD. [ncbi.nlm.nih.gov]

  In one patient, the disease presented with fatigue and an increased serum CK-level. [ojrd.biomedcentral.com]

• Asymptomatic

  Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. [scielo.br]

  In a recent study by Bertoldo et al. (34), a high prevalence of morphometric vertebral fractures was found: in fact, at least one fracture, although asymptomatic, was detected in 17 of the 22 (77%) patients studied. [ncbi.nlm.nih.gov]

  Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease. Eur J Pediatr 2007; 166: 871-4. 107. Kimura S. [medicinabuenosaires.com]

• Difficulty Climbing Stairs

  She had difficulty climbing stairs and standing from a seated position. She had undergone evaluation that included a muscle biopsy of the left thigh at age 46 demonstrating denervation atrophy. [ncbi.nlm.nih.gov]

  climbing stairs since the age of 25 years. [scielo.br]

• Underweight

  Nutrition Patients with adult Pompe disease, particularly with juvenile disease onset, are prone to underweight or even cachexia which may add to respiratory muscle dysfunction [79]. [ncbi.nlm.nih.gov]

• Respiratory Insufficiency

  OY-STERS The lack of respiratory insufficiency should not dissuade the clinician from considering the diagnosis of late-onset Pompe disease. [ncbi.nlm.nih.gov]

  Central respiratory drive in patients with neuromuscular diseases. Respir Care 2013; 58: 450-7. 50. Pellegrini N, Laforet P, Orlikowski D, et al. Respiratory insufficiency and limb muscle weakness in adults with Pompe’s disease. [medicinabuenosaires.com]

• Dyspnea

  Clinical Presentation Daytime symptoms suggestive of respiratory muscle weakness include dyspnea on exertion or rest, dyspnea on immersion in water, and reduced physical capacity. [ncbi.nlm.nih.gov]

• Respiratory Distress

  This clinical picture can be associated with severe restrictive respiratory changes that, in turn, may lead to respiratory distress. [ncbi.nlm.nih.gov]

• Vomiting

  Recent reports have pointed out to the GI symptoms including severe chronic diarrhea, intestinal incontinence, abdominal pain, lack of appetite, early satiety and vomiting that are underevaluated in the late onset form (51). [ncbi.nlm.nih.gov]

• Muscle Weakness

  Keywords: neuromuscular disorders, Pompe disease, respiratory muscle weakness, mechanical ventilation, cough assistance 1. Introduction Empirical data on the management of respiratory muscle weakness in adults with Pompe disease are scarce. [ncbi.nlm.nih.gov]

  As muscle weakness is progressive, facial muscles, muscles supporting the spine, and those involved in breathing and eating can also be affected. [pompediseasenews.com]

• Myopathy

  In muscle biopsy, the abnormalities found were: type 1 and 2 fiber atrophy (2), type 1 fiber atrophy (1), type 2 fiber atrophy (4), recent and chronic denervation (3), chronic myopathy (5), active myopathy (4), chronic and active myopathy (2), and myopathy [scielo.br]

  myopathies, metabolic myopathies and others [42]. [ncbi.nlm.nih.gov]

  Respiratory muscle and pulmonary function in polymyositis and other proximal myopathies. Thorax 1983; 38:616-23. 46. Fiorentino G, Annunziata A, Politano L. [medicinabuenosaires.com]

• Proximal Muscle Weakness

  PATIENT 2 A 71-year-old man began to have slowly progressive proximal lower limb muscle weakness at age 51. His symptoms began with difficulty climbing stairs. [ncbi.nlm.nih.gov]

Our patients demonstrate key diagnostic features that should lead the clinician to consider adult-onset Pompe disease early in the workup of a myopathy. This is important as enzyme replacement therapy is available. [ncbi.nlm.nih.gov]

All of the secondary and tertiary endpoints favored the treatment group, but only the MEP results reached statistical significance.18 Patients in the treatment and placebo groups had similar frequencies of adverse events, serious adverse events, and treatment-related [ncbi.nlm.nih.gov]

It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [pompediseasenews.com]

They measured an increase in 6MWD during the first year after treatment onset, and a decline from then on. [ojrd.biomedcentral.com]

Prognosis and management While late-onset Pompe disease is incurable, levels of the acid alpha-glucosidase enzyme can be replenished with enzyme replacement therapy, generally given patients every two weeks throughout their lives. [pompediseasenews.com]

Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009;124:e1116–25. doi: 10.1542/peds.2008-3667. [PubMed] [CrossRef] [Google Scholar] 18. Burton BK. [ncbi.nlm.nih.gov]

We propose that gene panels should be used as a first-tier test in patients with suspected muscle disorders of undetermined etiology. [ncbi.nlm.nih.gov]

Pompe disease in Austria: clinical, genetic and epidemiological aspects. J Neurol. 2018;265(1):159–64. Article PubMed CAS Google Scholar Zhao Y, Wang Z, Lu J, Gu X, Huang Y, Qiu Z, et al. [ojrd.biomedcentral.com]

Epidemiology of Pompe disease is a subject of debate: it is usually reported that the combined frequency of both forms of the disease is 1:40,000/60,000 although several countries have provided a very different account (4). [ncbi.nlm.nih.gov]

Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med 2005; 7: 147-50. 96. Winchester B, Bali D, Bodamer OA, et al. [medicinabuenosaires.com]

Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders. Biochimie 2016; 130: 152-62. 17. Kishnani PS, Beckemeyer AA, Mendelsohn NJ. [medicinabuenosaires.com]

Cupler provided expert opinion on the history, pathophysiology, and diagnosis (including a newborn screening program) of Pompe disease. Dr. Han and Dr. Wolfe led the discussion on the musculoskeletal component of Pompe disease. Dr. [ncbi.nlm.nih.gov]

[…] plantarflexion contractures, thigh binders to prevent iliotibial band contractures, knee splints to prevent knee flexion contractures, resting wrist/hand/finger splints to prevent wrist and finger flexor contractures over multiple joints,34 and lumbar [ncbi.nlm.nih.gov]