Glycogen storage disease type II physical examination: Difference between revisions
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* Genitourinary examination of patients with GSD type 2 is usually normal. | * Genitourinary examination of patients with GSD type 2 is usually normal. | ||
Revision as of 14:39, 15 January 2018
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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
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
OR
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
Physical Examination
- Physical examination of patients with glycogen storage disease type 2 (GSD type 2) is usually remarkable for muscular weakness, hypotonia, absent deep tendon reflexes and paucity of movements.[1]
Appearance of the Patient
- Patients with infantile GSD type 2 usually appear dyspnoeic, pale, and/or cyanotic
Vital Signs
- Tachypnea / bradypnea
Skin
HEENT
- Enlarged tongue may be present.
- Tougue fibrillation and/or absent tongue movements may be present
Neck
- Neck examination of patients with GSD type 2 is usually normal.
Lungs
- Respiratory distress
Heart
- Gallops may be present
- Murmur may be present
Abdomen
- Hepatomegaly may be present
- Splenomegaly may be present
Back
- Scoliosis may be present
Genitourinary
- Genitourinary examination of patients with GSD type 2 is usually normal.
Neuromuscular
- Hypotonia
- Absent deep tendon reflex
Extremities
- Tremors may be present
- Spasm of legs may be rarely present
References
- ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.