Annals of Indian Academy of Neurology
  Users Online: 1225 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
Year : 2006  |  Volume : 9  |  Issue : 2  |  Page : 110-112

An uncommon presentation of hexosaminidase deficiency

1 Departments of Pediatric Neurology, Government Medical College, Trivandrum, Kerala - 695 011, India
2 Departments of Pediatrics, Government Medical College, Trivandrum, Kerala - 695 011, India
3 Department of Biochemistry, University of Kerala, Trivandrum, Kerala - 695 011, India

Correspondence Address:
Mary Iype
TC 4/2559 (1), Pattom Kawdiar Road, Kawdiar PO, Trivandrum - 695003
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-2327.25983

Rights and Permissions

Focal muscular atrophy (FMA) can occur due to several causes. We report three cases of FMA associated with deficiency of hexosaminidase A. The serum level of hexosaminidase A was assayed in seven patients with FMA without any definite aetiology identified over a period of two years. Three cases of FMA showed deficiency of hexosaminidase A. All these patients had clinical features of isolated lower motor neurone involvement in one limb without any evidence of involvement of the rest of the neuraxis. Detailed laboratory tests were negative. Electromyography confirmed neurogenic involvement without any evidence of radiculopathy or neuropathy. Hexosaminidase deficiency as a possible association for FMA is highlighted.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded170    
    Comments [Add]    

Recommend this journal