PMID- 34431800
OWN - NLM
STAT- MEDLINE
DCOM- 20220117
LR  - 20220117
IS  - 1537-1611 (Electronic)
IS  - 1522-0443 (Linking)
VI  - 23
IP  - 1
DP  - 2021 Sep 1
TI  - A Case of MuSK Myasthenia Gravis Presenting With Persistent Respiratory 
      Insufficiency.
PG  - 39-42
LID - 10.1097/CND.0000000000000374 [doi]
AB  - Muscle-specific kinase (MuSK) antibody is seen in 4%-10% of patients with 
      myasthenia gravis (MG), with 40% of these patients reporting bulbar weakness as 
      the initial symptom. We present the case of a 40-year-old woman with MuSK MG 
      whose only presenting symptom was progressive respiratory insufficiency 
      necessitating BiPAP use 16-24 hours daily. She was unresponsive to treatment for 
      cardiac and pulmonary causes and thus referred to neurology. Initial workup 
      directed toward autoimmune and genetic myopathies was unrevealing. MuSK 
      antibodies were positive (60.7 nmol/L, nl 0.00-0.02). Electrodiagnostic studies 
      were unremarkable other than single fiber electromyography which was consistent 
      with a defect in neuromuscular transmission. Treatment with prednisone, plasma 
      exchange, and rituximab led to improvement to reliance on BiPAP only at night. 
      However, her most treatment refractory and quality of life limiting symptom 
      continues to be respiratory insufficiency. Further investigation to better 
      characterize differential response to treatment in this subset of patients with 
      MuSK MG may be needed.
CI  - Copyright (c) 2021 Wolters Kluwer Health, Inc. All rights reserved.
FAU - Tsai, Carolyn
AU  - Tsai C
AD  - Department of Neurology, The University of North Carolina at Chapel Hill, Chapel 
      Hill, NC.
FAU - Howard, James F Jr
AU  - Howard JF Jr
FAU - Mehrabyan, Anahit
AU  - Mehrabyan A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Clin Neuromuscul Dis
JT  - Journal of clinical neuromuscular disease
JID - 100887391
RN  - 0 (Autoantibodies)
RN  - 0 (Receptors, Cholinergic)
RN  - EC 2.7.10.1 (MUSK protein, human)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
SB  - IM
MH  - Adult
MH  - Autoantibodies
MH  - Female
MH  - Humans
MH  - *Myasthenia Gravis/complications/drug therapy
MH  - Plasma Exchange
MH  - Quality of Life
MH  - Receptor Protein-Tyrosine Kinases
MH  - Receptors, Cholinergic
MH  - *Respiratory Insufficiency/etiology
COIS- The authors report no conflicts of interest.
EDAT- 2021/08/26 06:00
MHDA- 2022/01/18 06:00
CRDT- 2021/08/25 12:17
PHST- 2021/08/25 12:17 [entrez]
PHST- 2021/08/26 06:00 [pubmed]
PHST- 2022/01/18 06:00 [medline]
AID - 00131402-202109000-00006 [pii]
AID - 10.1097/CND.0000000000000374 [doi]
PST - ppublish
SO  - J Clin Neuromuscul Dis. 2021 Sep 1;23(1):39-42. doi: 
      10.1097/CND.0000000000000374.