| Identifier |
walsh_2014_s2_c5-2 |
| Title |
Muscle Bound or Unbound? |
| Creator |
Dane A. Breker; Jonathan D. Trobe; Ann A. Little; Sandra I. Camelo-Piragua |
| Affiliation |
(DAB) (JDT) University of Michigan, Kellogg Eye Center, Department of Ophthalmology and Visual Sciences Ann Arbor, MI; (JDT) (AAL) University of Michigan, Department of Neurology Ann Arbor, MI; (SIC) University of Michigan, Department of Pathology Ann Arbor, MI |
| Subject |
Rippling Muscle Disease; Myasthenia; Anti-titin Antibody; Autoimmune Diseases |
| History |
A 52 year old former Olympic athlete developed myalgias, cramping, and stiffness in the upper arms, chest, thigh, and calves in 2009 after a blood transfusion for hematochezia attributed to antiplatelet treatment following coronary stenting. Symptoms were worst in the morning, when he could not walk. Simvastatin was stopped without improvement. There was no history of fever, night sweats, or skin lesions and no pertinent family history. Neurologic examination was normal except for increased gastrocnemius muscle bulk and percussion-induced waves of muscle contraction in the calves and thighs. EMG showed infrequent gastrocnemius fasciculations but no evidence of neuropathy, myopathy, or myositis. Percussion- induced muscle contraction was not electrically silent. Paraneoplastic panel demonstrated elevated striated muscle and acetylcholine receptor antibody titers, but single-fiber EMG did not demonstrate increased jitter or blocking. There was a high CPK (500), slight elevation in liver enzymes, and low 25-hydroxy vitamin D. CBC, vasculitis panel, myositis antibody profile, ESR, CRP, hepatitis screening, HIV, SPEP/UPEP, B12, and thyroid studies, CT of chest, abdomen, and pelvis and caveolin-3 (CAV3) genetic testing were normal. A 7-day trial of prednisone 20mg/day did not improve CPK elevation or cramping. Four months later, the patient developed diplopia and was sent for neuro-ophthalmologic examination. |
| Disease/Diagnosis |
Autoimmune rippling muscle disease and myasthenia gravis. |
| Presenting Symptom |
A 52 year old former Olympic athlete developed myalgias, cramping, and stiffness in the upper arms, chest, thigh, and calves in 2009 after a blood transfusion for hematochezia attributed to antiplatelet treatment following coronary stenting. |
| Neuroimaging |
Computed Tomography |
| Date |
2014-03 |
| References |
1. Torbergsen T. A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen. Acta Neurol Scand 1975 Mar;51(3):225-32. 2. Greenberg SA. Acquired rippling muscle disease with myasthenia gravis. Muscle Nerve 29: 143-146, 2004 3. Watkins TC, et al. Identification of skeletal muscle autoantigens by expression library screening using sera from autoimmune rippling muscle disease (ARMD) patients. J Cell Biochem. 2006 Sep 1;99(1):79-87. 4. Ansevin CF, Agamanolis DP. Rippling muscles and myasthenia gravis with rippling muscles. Arch Neurol. 1996 Feb;53(2):197-9. 5. Kosmorsky GS, et al. Intermittent esotropia associated with rippling muscle disease. J Neuroophthalmol. 1995 Sep;15(3):147-51. 6. Schoser B, et al. Neuromuscul Disord. Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two. 2009 Mar;19(3):223-8 7. Somnier FE. Clinical implementation of anti-acetylcholine receptor antibodies. J Neurol Neurosurg Psychiatry. 1993 May;56(5):496-504. |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Source |
46th Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2014 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2014. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s60k566f |
| Setname |
ehsl_novel_fbw |
| ID |
179244 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s60k566f |
