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Later-Onset Fabry Disease
An Adult Variant Presenting With the Cramp-Fasciculation Syndrome
Christopher S. Nance, MD;
Christopher J. Klein, MD;
Maryam Banikazemi, MD;
Steven H. Dikman, MD;
Robert G. Phelps, MD;
Justin C. McArthur, MBBS, MPH;
Moses Rodriguez, MD;
Robert J. Desnick, PhD, MD
Arch Neurol. 2006;63:453-457.
Background Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of  -galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy. The neuropathic pain presumably results from glycosphingolipid accumulation in the vascular endothelium and in small-caliber nerve fibers, and is treatable by enzyme replacement therapy. Later-onset variants with residual -galactosidase A activity lack vascular endothelial involvement and classic symptoms, which lead to the development of cardiac and/or renal disease after the fourth decade of life.
Objective To expand the later-onset Fabry phenotype to include cramp-fasciculation syndrome without small-fiber neuropathy.
Methods A 34-year-old man who presented with chronic exercise-induced pain, fasciculations, and cramps of the feet and legs, and his similarly affected mother, were evaluated. Clinical, biochemical, and molecular studies were performed.
Results Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte -galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation. His mother was heterozygous for the A143T mutation.
Conclusion The presentation of cramps and fasciculations without apparent small-fiber neuropathy expands the phenotype of later-onset Fabry disease.
Author Affiliations: Peripheral Neuropathy Research Center (Drs Klein and Nance) and Multiple Sclerosis Research Center (Dr Rodriguez), Mayo Clinic, Rochester, Minn; Departments of Human Genetics (Drs Banikazemi and Desnick), Pathology (Dr Dikman), and Dermatology (Dr Phelps), Mount Sinai School of Medicine, New York, NY; Departments of Neurology and Epidemiology, Johns Hopkins School of Medicine, Baltimore, Md (Dr McArthur).
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