| Identifier |
walsh_2004_s2_c3 |
| Title |
Frozen Eyes and Muscle Cramps |
| Creator |
Margaret Wong |
| Subject |
Glycogen Storage Disease Type V; Ophthalmoplegia, Chronic Progressive External; Point Mutation; Mitochondrial Myopathies |
| History |
A 43-year old female with bilateral restricted eye movements and fatigue.Previous history significant for paroxysmal tachycardia, meningitis (age 27), psoriasis, osteoarthritis, chirrhosis of liver cholecystectomy and positive factor V Leiden. |
| Pathology |
Increased glycogen content throughout cytoplasm; Phosphorylase stain showed diminished enzyme activity |
| Disease/Diagnosis |
McArdle Disease |
| Clinical |
Restricted ductions on upgaze; Abduction and adduction only 50% of normal |
| Presenting Symptom |
Restricted eye movement |
| Neuroimaging |
CT; MRI |
| Treatment |
N/A |
| Date |
2004 |
| References |
1. Sluga E, Moser K: Myopathy with glycogen storage and giant mitochondria (ultrastructural and biochemical findings), in Walton JN, Canal N, Scarlatto G (eds): Muscle Diseases. Amsterdam, Excerpta Medica, 1970, 116-119. 2. DiMauro S, Schotland DL, Bonilla E, Lee CP, Gambetti P, Rowland LP. Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria. Arch Neurol 29:170-9 (1973). 3. Moggio M, Valli G, Cerri C, Scarlato G, Pellegrini G. Progressive extrinsic ophthalmoplegia with peripheral neuropathy and storage of muscle glycogen. J Neurol 221: 25-37 (1979). 4. Scelsi R, Marchetti C, Faggi L, Sandrini G, Rocchelli B. An ocular myopathy with glycogen storage and abnormal mitochondria in muscle fibres. Eur Neurol 20: 440-444 (1981). |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
30th Annual North American Neuro-Ophthalmology Society Meeting, Frank B. Walsh Session CD-ROM |
| Relation is Part of |
Case 3, Session II, Walsh Session, NANOS 2004 |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2008. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6b56nf9 |
| Contributor Primary |
Wong, Margaret |
| Contributor Secondary |
Sharpe, James A.; Wong, Agnes M.F. |
| Setname |
ehsl_novel_fbw |
| ID |
177584 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6b56nf9 |
