Penn Medicine Logo Department of Neurology

Divisions and Programs

Neuromuscular Disorders


Division Chief: Chafic Karam, MD

Link to Penn Medicine Website - Neuromuscular Division 

Electromyography (EMG) and nerve conduction studies (NCS) are performed by members of the Neuromuscular Division at the Hospital of the University of Pennsylvania (HUP), as well as Pennsylvania Hospital (PAH) and the VAMC. At HUP, over 2500 patients undergo studies each year. Over the past decade, we have doubled in size – 4 EMG faculty to 8 faculty (6 adult and 2 pediatric).  The lab has achieved the highest level of accreditation “with exemplary status” by the AANEM. In addition to highly specialized studies, like single-fiber EMG and focused autonomic testing, we have added capacity for small-fiber neuropathy evaluations with QST (quantitative sensory testing) and skin biopsy (for epidermal nerve fiber density measurement).

In addition, Penn has several signature programs.  The Penn Comprehensive Amyotrophic Lateral Sclerosis (ALS) Center at Pennsylvania Hospital, which is the largest in the region, specializes in multidisciplinary, comprehensive care of ALS patients, including the opportunity to participate in advanced clinical trials for the diagnosis and treatment of ALS.

The Charcot-Marie-Tooth Center of Excellence is located at HUP, and is the largest center on the east coast specializing in this common cause of neuropathy. More clinical information can be found at the Inherited Neuropathy Consortium.

The Muscular Dystrophy Association Clinic at HUP provides advanced care for people who have inherited diseases of nerve and muscle as well as myasthenia gravis and Lambert-Eaton syndrome. The teams at HUP and CHOP work together to provide lifespan care for patients with these disorders. Our Center participates in clinical trials of muscle diseases.

The Guillain-Barre Syndrome (GBS)/Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Center of Excellence at HUP has experts who can diagnose and treat these disorders, including both inpatient and outpatient units.

Centers and Programs

Labs

  • Scherer Lab - Scherer’s main interest is the pathogenesis of demyelinating diseases, particularly those caused by mutations in the genes that encode the gap junction proteins Cx32 and Cx47. Current projects in the scientific laboratory relate to (1) the role of Cx32 in the pathogenesis of inherited demyelinating neuropathy, (2) how gap junctions between astrocytes and oligodendrocytes affect the structure/function of CNS myelin, (3) how the myelin sheath organizes the structure of the axon, and (4) animal models of inherited neuropathies. In the clinic, he also participate in a large effort in finding new genetic causes of inherited neuropathies.
  • James Dowling - James Dowling’s research is focused on congenital myopathies and spans pre-clinical, translational, and clinical arenas.

Clinical Trials

The Neuromuscular research team has an extensive study portfolio including the following indications: Amyotrophic Lateral Sclerosis (ALS), Charcot-Marie-Tooth, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Guillain-Barré Syndrome (GBS), Chronic inflammatory Demyelinating Polyneuropathy (CIDP), Pompe Disease, Inclusion Body Myositis, Facioscapulohumeral Muscular Dystrophy (FSHD), Myotonic Dystrophy, Spinal Muscular Atrophy, Multifocal Motor Neuropathy, Generalized Myasthenia Gravis Amyloid Transthyretin (ATTR) Amyloidosis, and Anti-NMDA Receptor Encephalitis. This team partners with PNTC to run gene therapy trials.  A point of pride for this Division is the participation in 2 therapies that have transitioned from clinical research to clinical care: Spinraza & Qalsody The Division currently has 41 active clinical trials supported by several faculty, including Michael Baer, Lauren Elman, Chafic Karam, Eric Lancaster, Paul McIntosh, Colin Quinn and Steve Scherer.