eMedicine Specialties > Physical Medicine and Rehabilitation > Myopathy

Acid Maltase Deficiency Myopathy: Follow-up

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

Follow-up

Deterrence

Acid maltase deficiency is an inherited, autosomal recessive disorder; therefore, there are no prevention measures for it.

Complications

Respiratory and heart complications are common in the infantile form of acid maltase deficiency (AMD). Severe muscle weakness, including weakness of the respiratory muscles, is a complication of all 3 types of AMD.

Prognosis

The infantile form of acid maltase deficiency has a very unfavorable prognosis. Death usually occurs between ages 6 months and 2 years. A less severe infantile form that exhibits a better prognosis and improved survival has been identified. Patients with the late infantile form may survive for several years.

Patient Education

Educating patients and family members thoroughly about this condition is important. Parents and caregivers need to be instructed in all aspects of taking care of an infant or child with acid maltase deficiency (AMD). Increasing public awareness of this disease also is important, as more research is needed to find a cure for AMD.

 
Acknowledgments

The editors would like to thank Daniel A Lee, MD, for his previous association with this article. 



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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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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