Glycogen storage disease type III physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Physical examination of patients with glycogen storage disease type 3 is usually remarkable for protruding abdomen due to marked hepatomegaly and proximal muscle weakness.
Physical Examination
Physical examination of patients with glycogen storage disease type 3 is usually remarkable for protruding abdomen due to marked hepatomegaly and proximal muscle weakness.[1][2]
Appearance of the Patient
- Patients with glycogen storage disease type 3 usually appear normal.
Vital signs
- Vital signs of patients with glycogen storage disease type 3 are usually normal.
Skin
- Signs due to hypoglycemia include:
HEENT
- HEENT examination of patients with glycogen storage disease type 3 is usually normal.
Neck
- Neck examination of patients with glycogen storage disease type 3 is usually normal.
Lungs
- Signs due to hypoglycemia include:
Heart
- Displaced apex beat may be seen in case of left ventricular hypertrophy.
Abdomen
- Protruding abdomen due to marked hepatomegaly (storage of glycogen and fat).
Genitourinary
- Genitourinary examination of patients with glycogen storage disease type 3 is usually normal.
Neuromuscular
Signs due to hypoglycemia in infants include:
Older infants show signs including:
Extremities
- Growth retardation
- Proximal muscle weakness
Extremities
- Extremities examination of patients with glycogen storage disease type 3 is usually normal.
References
- ↑ Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.
- ↑ Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/