Diagnostic Considerations

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

Infantile
- Acute Werdnig-Hoffman disease (spinal muscular atrophy [SMA] type I)
- Muscular dystrophies (Duchenne)
- Other myopathies
- Floppy infant syndrome
- Endocardial fibroelastosis
- Left ventricular outflow tract obstruction
- Coarctation of the aorta
- Myocarditis
Juvenile and adult forms
- Limb-girdle dystrophy
- Chronic inflammatory myopathy

Differential Diagnoses

Physical Medicine and Rehabilitation for Limb-Girdle Muscular Dystrophy

Workup

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Media Gallery

Glycogen molecule; by cleaving glycogen's 1,4 and 1,6 alpha-glycosidic linkages, the enzyme acid maltase gives rise to free glucose molecules.
Metabolic pathways of carbohydrates.

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Author

Stephen Kishner, MD, MHA Professor of Clinical Medicine, Physical Medicine and Rehabilitation Residency Program Director, Louisiana State University School of Medicine in New Orleans

Stephen Kishner, MD, MHA is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Eric F Sterne, MD Resident Physician, Department of Physical Medicine and Rehabilitation, Louisiana State University School of Medicine in New Orleans

Eric F Sterne, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Medical Association, Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Chief Editor

Additional Contributors

Elizabeth A Moberg-Wolff, MD Medical Director, Pediatric Rehabilitation Medicine Associates

Elizabeth A Moberg-Wolff, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Physical Medicine and Rehabilitation

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Merz.

Acknowledgements

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.

Daniel A Lee, MD Intern, Department of Family Medicine, Contra Costa Regional Medical Center

Disclosure: Nothing to disclose.

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.