A multi-layered approach to treating neuromuscular disorders at Children’s National Health System ensures personalized care and accessibility to a robust offering of clinical trials.
The Neuromuscular Medicine Program leverages the expertise of a multidisciplinary teams, cutting-edge research, and innovative technologies to care for a spectrum of neuromuscular conditions affecting children from infancy to age 21.
The diagnosis and treatment of children with neuromuscular diseases can be difficult. Children’s multidisciplinary team has the expertise to recognize these conditions and ensure a timely, accurate diagnosis. We provide comprehensive clinical evaluations, coordinate diagnostic testing, implement ongoing treatment, and provide genetic counseling where appropriate.
Neuromuscular conditions are rare. Many are misdiagnosed or go unrecognized, according to Mathula Thangarajh, MD, PhD, Director of the Neuromuscular Medicine Program at Children’s National.
Genetic and metabolic conditions are more common in infancy and early childhood; inherited neuropathies typically manifest symptoms in late childhood; and autoimmune conditions and trauma-related injuries are more common in teenage years.
Warning signs in children relate to deviation in normal developmental trajectory. Poor muscle tone, delay reaching motor milestones, difficulty walking, and poor exercise endurance are early signs of neuromuscular conditions.
To expedite evaluation, diagnosis, and treatment, specialists operate three clinics:
- The Neuromuscle Clinic is the gateway to the program. Specialists review medical histories and perform detailed clinical exams. Additional blood work, muscle ultrasound or MRI (magnetic resonance imaging), muscle biopsy, nerve conduction studies, electromyograms, and genetic testing may follow in the pursuit of an underlying diagnosis.
- The Muscular Dystrophy Association (MDA) Clinic is a one-stop clinic featuring multispecialty support for muscular dystrophies. In a single visit, children diagnosed with muscular dystrophies are attended to by experts from pulmonary medicine, pediatric rehabilitation medicine, cardiology, and physical and speech therapy.
- The Diagnostic Clinic specializes in diagnosis and treatment of rare and unique neuromuscular disorders. This clinic benefits from close collaboration with experts from National Institutes of Health.
General concerns that we evaluate include:
- Delay in acquiring motor skills
- Joint contractures, changes in joint structures (arthrogryposis)
- Low muscle tone (hypotonia, "floppy infant")
- Recurrent rhabdomyolisis (a condition affecting muscle cells)
The Neuromuscular Program coordinates care for patients with the following conditions:
- Muscular dystrophies such as Duchenne, Becker, Limb-Girdle, congenital MD’s, FSH (Facioscapulohumeral muscular dystrophy or FSHD), and Myotonic Dystrophy
- Congenital myopathies
- Acquired myopathies (polymyositis, dermatomyositis)
Motor Neuron Diseases
Neuromuscular Junction Diseases
- Myasthenia Gravis
- Congenital Myasthenic Syndromes
Peripheral Nerve Diseases
- Charcot-Marie-Tooth Disease, Dejerine-Sottas Disease, and Friedreich's Ataxia
- Acquired neuropathies and polyneuropathies: (GBS, CIDP)
- Mitochondrial myopathies, McArdle's Disease, Pompe's Disease, Phosphofructokinase Disease (Tarui's Disease), Carnitine Palmityl Transferase Deficiency
Breaking Barriers Through Research
A new oral medication shows promising success for treating Duchenne muscular dystrophy (DMD). VBP15 originated out of persisting questions behind the impact of glucocorticoids, according to Eric Hoffman, PhD, Director of the Center for Genetic Medicine Research at Children’s National.
VBP15 is innovative in addressing multiple problems in DMD muscle simultaneously: It stabilizes plasma membranes, avoids transactivation, and offers improved transrepression. VBP15 inhibits a molecule (NFkB) that plays an early role in inflammation and tissue damage in DMD muscle. VBP15 may prevent or delay the symptom onset when administered early, as well as help older DMD patients.
"These findings are very promising for advancing the treatment of DMD,” Dr. Hoffman said. “While the initial indication is treatment of DMD, VBP15 appears to hold additional promise for treating hundreds of other conditions."