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Table of Contents    
Year : 2014  |  Volume : 62  |  Issue : 3  |  Page : 313-314

Familial Dok7 congenital myasthenic syndrome responsive to salbutamol

1 Department of Neurology, Lourdes Hospital, Kochi, Kerala, India
2 Department of Rheumatology, Lourdes Hospital, Kochi, Kerala, India

Date of Submission25-Feb-2014
Date of Decision26-Feb-2014
Date of Acceptance02-Jun-2014
Date of Web Publication18-Jul-2014

Correspondence Address:
Boby Varkey Maramattom
Department of Neurology, Lourdes Hospital, Kochi, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.136999

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How to cite this article:
Maramattom BV, Patil R, Thomas J. Familial Dok7 congenital myasthenic syndrome responsive to salbutamol. Neurol India 2014;62:313-4

How to cite this URL:
Maramattom BV, Patil R, Thomas J. Familial Dok7 congenital myasthenic syndrome responsive to salbutamol. Neurol India [serial online] 2014 [cited 2021 Apr 13];62:313-4. Available from:


A 40-year-old man of non-consanguineous parentage presented with progressive weakness. From early childhood, he had a clumsy gait followed by a waddling gait at the age of 26 years. Six months before the present admission, he developed progressive generalized weakness and mild dysphagia, and at presentation, he was wheelchair bound. He had fatigable ptosis, bifacial and jaw muscle weakness, neck and truncal weakness, and generalized muscle weakness (Grade 3-4/5). Mild wasting of the masseter, upper arm, shoulder girdle, and spinati muscles was noted [Figure 1]. Electrodiagnostic studies and low rate RNS revealed 58% decrement. Computed tomography of the thorax was normal. Acetylcholine receptor (AChR) antibodies, muscle receptor tyrosine kinase (MuSK) immunoglobulin G (IgG), and VGCC IgG were negative. Two of his sisters had a similar disease course. [Figure 2] He was started on pyridostigmine 60 mg 3 times a day with mild improvement, and his blood was sent for CMS genetic panel. After discharge, he again deteriorated and became chair bound within 2 months. CMS panel showed a homozygous mutation for DOK7 (c. 1124_1127dupTGCC p.Ala378Serfs*30) [Centogene AG, Germany]. He was started on oral salbutamol 2 mg 3 times a day. At 6 months follow-up, he had progressively improved and was ambulating independently.
Figure 1: Panel A shows wasting of the masseter muscles bilaterally. Panel B shows wasting of the shoulder girdle bilaterally

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Figure 2: Pedigree chart. Arrow points to the proband

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Autosomal recessive DOK 7 gene ["downstream of kinase" 7] mutations produce a CMS with prominent proximal limb weakness. [1],[2] DOK7 CMS is a cytoplasmic protein interacting with the skeletal muscle receptor tyrosine kinase (MuSK) and is important in Agrin-independent MuSK activation during synapse development. [3] Features of DOK7-CMS include stridor, tongue wasting, limb-girdle weakness, and ptosis. [1] Genetic testing is necessary to confirm the diagnosis. Most patients with DOK7-CMS show a fleeting improvement with acetylcholinesterase inhibitor (AChEI) therapy. Treatment with salbutamol 2-4 mg tds produces gradual and sustained improvement possibly through postsynaptic β2-adrenoceptor binding, which improves stability and integrity of AChR. [4]

  References Top

1.Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenics yndromes. Brain 2007;130:1497-506.  Back to cited text no. 1
2.Palace J. DOK7 congenital myasthenic syndrome. Ann N Y Acad Sci 2012;1275:49-53.  Back to cited text no. 2
3.Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, et al. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science 2006;312:1802-5.  Back to cited text no. 3
4.Liewluck T, Selcen D, Engel AG. Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia. Muscle Nerve 2011;44:789-94.  Back to cited text no. 4


  [Figure 1], [Figure 2]


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