eMedicine Specialties > Physical Medicine and Rehabilitation > Myopathy

Acid Maltase Deficiency Myopathy: Differential Diagnoses & Workup

Author: Michael Weinik, DO, Associate Chairman, Associate Professor, Physical Medicine and Rehabilitation, Temple University Hospital
Coauthor(s): Frank J King, MD, Clinical Instructor, Department of Physical Medicine and Rehabilitation, Georgia Pain Physicians/Emory School of Medicine
Contributor Information and Disclosures

Updated: Apr 15, 2009

Differential Diagnoses

Limb-Girdle Muscular Dystrophy

Other Problems to Be Considered

Other diseases must be ruled out before the diagnosis of acid maltase deficiency is definite. These other entities include spinal muscular atrophy and Duchenne muscle dystrophy, as well as most causes of floppy infant syndrome. Limb-girdle dystrophy and chronic inflammatory myopathy should be ruled out in the adult.

Differential diagnosis

Workup

Laboratory Studies

  • Serum CK usually is elevated in the forms of the disease that affect younger patients, but CK can be within the reference range in the adult variety. CK levels can be as high as 2000 IU/L.
  • Serum aspartate aminotransferase and lactic dehydrogenase can also be elevated.
  • The tissue concentration level of acid maltase helps to establish a definite diagnosis.9

Imaging Studies

  • In patients with acid maltase deficiency, chest radiographs reveal an enlarged, globular heart associated with pulmonary vascular congestion. Atelectasis can also be seen.

Other Tests

  • EMG
    • Brief, small-amplitude, polyphasic potentials or myopathic features, excessive electrical irritability, and pseudomyotonic discharges usually are seen on EMG.
    • A myopathy is demonstrated.
    • Neuropathic findings may be revealed.
    • Pseudomyotonia may be seen in the absence of myotonia.
  • Electrocardiographic findings include extremely tall and broad QRS complexes (representing ventricular depolarization) with a short PR interval (time between P wave and the beginning of the QRS complex), commonly less than 0.009 seconds. The short PR interval may be due to facilitated atrioventricular conduction as a result of myocardial glycogen deposition. A distinct left ventricular trabeculation can be seen on selective angiography.
  • Prenatal/postnatal testing
    • Prenatal diagnosis using chorionic villi or amniocentesis is available for the fatal infantile form. Decreased serum levels of acid maltase can be detected. Acid phosphatase levels also can be measured and will be elevated.
    • Newborn screening for Pompe disease can be performed by determining the total acid alpha-glucosidase in plasma or dried blood spots. The sensitivity of these tests is 82-95%, and the specificity is 100%.

Procedures

  • Biopsy
    • The diagnosis of acid maltase deficiency (AMD) usually is made based on the absence or reduction in the levels of alpha-acid maltase in muscle tissue or cultured skin fibroblasts. This deficiency usually is more pronounced in the infantile form than in the juvenile and adult forms.
    • Muscle biopsy shows the presence of vacuoles that stain positive for glycogen. The large vacuoles contain material that is positive for the periodic acid-Schiff stain (typical of lysosomal glycogen storage). Acid phosphatase is increased, most likely because of a compensatory increase in the production of lysosomal enzymes. Electron microscopy reveals glycogen accumulation within the vacuoles and in the cytoplasm.
    • Brain tissue samples from patients with AMD reveal swelling of the perinuclear space (perikaryal edema) caused by excessive storage of glycogen. These cells usually display absence or dispersion of Nissl substance. The cytoplasm may be foamy or stained irregularly, and the nucleus may not be displaced to the periphery. Storage-induced changes tend to be more diffuse or multifocal rather than localized.

More on Acid Maltase Deficiency Myopathy

Overview: Acid Maltase Deficiency Myopathy
Differential Diagnoses & Workup: Acid Maltase Deficiency Myopathy
Treatment & Medication: Acid Maltase Deficiency Myopathy
Follow-up: Acid Maltase Deficiency Myopathy
Multimedia: Acid Maltase Deficiency Myopathy
References
Further Reading
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References

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Keywords

Pompe disease, Pompe's disease, Pompe, glycogen storage disease, myopathy, cardiomegaly, maltase, acid maltase, acid maltase deficiency, Myozyme, glycogenosis, cardiomegalia glycogenica diffusa, type II glycogenosis, glycogen storage disease type II, severe muscle weakness

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Contributor Information and Disclosures

Author

Michael Weinik, DO, Associate Chairman, Associate Professor, Physical Medicine and Rehabilitation, Temple University Hospital
Michael Weinik, DO is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation
Disclosure: Nothing to disclose.

Coauthor(s)

Frank J King, MD, Clinical Instructor, Department of Physical Medicine and Rehabilitation, Georgia Pain Physicians/Emory School of Medicine
Frank J King, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Medical Association, and Association of Academic Physiatrists
Disclosure: Nothing to disclose.

Medical Editor

Elizabeth A Moberg-Wolff, MD, Associate Professor and Pediatric PM&R Fellowship Director, Department of Physical Medicine and Rehabilitation, Medical College of Wisconsin; Program Director, Tone Management and Mobility, Department of Physical Medicine and Rehabilitation, Children's Hospital of Wisconsin
Elizabeth A Moberg-Wolff, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation
Disclosure: Medtronic Neurological Grant/research funds Speaking and teaching

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kat Kolaski, MD, Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine
Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation
Disclosure: Nothing to disclose.

CME Editor

Kelly L Allen, MD, Regional Medical Director, IMX-Medical Management Services
Disclosure: Nothing to disclose.

Chief Editor

Denise I Campagnolo, MD, MS, Director of Multiple Sclerosis Clinical Research and Staff Physiatrist, Barrow Neurology Clinics, St Joseph's Hospital and Medical Center; Investigator for Barrow Neurology Clinics; Director, NARCOMS Project for Consortium of MS Centers
Denise I Campagnolo, MD, MS is a member of the following medical societies: Alpha Omega Alpha, American Association of Neuromuscular and Electrodiagnostic Medicine, American Paraplegia Society, Association of Academic Physiatrists, and Consortium of Multiple Sclerosis Centers
Disclosure: Teva Neuroscience Honoraria Speaking and teaching; Serono-Pfizer Honoraria Speaking and teaching

 
 
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