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Supplemental information includes a table that illustrates DNA copy alterations identified using micro-array copy number analysis, the photos of affected individuals, the illustration of beadarray analysis of SNP data, used to identify the chromosomal subregion duplication and deletion events present in family members, and FISH karyotype analyses. (DOCX 1037Â kb)

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.