Neuromuscular Disorders Center
DENT specializes in treating the entire spectrum of neuromuscular disorders, including ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s Disease), peripheral neuropathy, myopathy, myasthenia gravis, and muscular dystrophy.
Diagnosis and Treatment
We use the latest diagnostic techniques to detect neuromuscular disorders. Our physicians are fellowship-trained in both neuromuscular diseases and electromyography (EMG), which is used in conjunction with a neurological exam to diagnose a wide range of problems. We also perform skin biopsies for evaluation of small fiber neuropathy and autonomic neuropathy.
Our multidisciplinary approach to treatment involves a coordinated approach that employs a wide range of sub-specialists, including physical therapists, speech therapists, respiratory therapists, and occupational therapists.
Skin Biopsy for Evaluation of Small Fiber Neuropathy and Autonomic Neuropathy
Small fiber neuropathy (SFN) is caused by damage to the small, unmyelinated fibers in the peripheral nerves that innervate the skin and internal organs, including the cardiovascular system, gastrointestinal tract, and bladder, among others. These fibers convey pain and temperature sensations from the skin, and mediate autonomic functions. Dysfunction of the small nerve fibers can cause sensory or autonomic symptoms. The neurological examination and EMG and nerve conduction studies that measure the large nerve fibers are usually normal so that the diagnosis requires examination of the small nerve fibers in the skin. This can be done by taken skin samples by punch skin biopsy at standard sites, and the density of the small nerve fibers is determined by morphometry after immunostaining with an antibody to the axonal marker PGP- 9.5. Two standardized tests are available; the Epidermal Nerve Fiber Density (ENFD) test which measures the density of the small sensory nerve fibers in the skin, and the Sweat Gland Nerve Fiber density (SGNFD) test which measures the density of the small autonomic nerve fibers in the sweat glands. The SGNFD test may also show a decrease in nerve fiber density in some patients with small fiber neuropathy whose ENFD test is normal.
As mentioned above, the skin samples are taken by a 3mm punch skin biopsy at standard sites, distally at either the foot or distal leg (calf), and proximally at the thigh, after prepping the skin with alcohol and betadine solution followed by the application of local anesthetic, 2% lidocaine with epinephrin. No sutures are required and only small band-aids are applied at the skin biopsy sites. Samples will then be shipped to a standardized laboratory for processing and reading. Values are compared to those obtained in normal subjects.
Making the diagnosis of SFN provides an explanation for the symptoms, and helps direct further testing for potentially reversible causes, whose treatment can result in improvement of the neuropathy.
We work closely with the Muscular Dystrophy Association (MDA), hosting the MDA Clinic at both our Amherst and Orchard Park locations. Clinic physicians and therapists see patients with the goal of targeting the specific needs of neuromuscular conditions, rotating through the full spectrum of services during their visit.
DENT Tower – Amherst
1st and 4th Thursday of every month
DENT Sterling Medical Center – Orchard Park
2nd Thursday of every month
For more information about the MDA Clinic, call us at 716-250-2000.
ALS Support Group
Our team strives to provide support to both the patient and family in managing this difficult disease. We host a monthly ALS Support Group at our Tower facility.
DENT Tower – Amherst
1st Tuesday of every month
For more information about the ALS Support Group, call us at 716-250-2000.