Conditions We Treat

Research Subject

Our neuromuscular program treats a variety of pediatric neuromuscular disorders, the most common being Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and spinal muscular atrophy (SMA).


Ataxia is a degenerative disease of the nervous system. Many symptoms of Ataxia mimic those of being drunk, such as slurred speech, stumbling, falling, and incoordination. These symptoms are caused by damage to the cerebellum, the part of the brain that is responsible for coordinating movement.

Barth syndrome

Barth syndrome is a rare condition characterized by an enlarged and weakened heart, weakness in muscles used for movement, recurrent infections due to small numbers of white blood cells, and short stature. Barth syndrome occurs almost exclusively in males.

Becker muscular dystrophy

Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males. The age of onset and rate of progression can vary.

Centronuclear myopathies

Centronuclear myopathy is a condition characterized by muscle weakness and wasting in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Damage to the peripheral nerves that worsens over time can result in alteration or loss of sensation and wasting of muscles in the feet, legs, and hands.

Congenital muscular dystrophy

Congenital muscular dystrophy (CMD) is a group of muscle diseases that occur at birth or early during infancy. CMDs are generally characterized by diminished muscle tone, progressive muscle weakness, abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones.

Cori disease (GSD III)

Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of glycogen in the body’s cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.

Distal muscular dystrophy

Distal muscular dystrophy (DD) is a group of rare diseases that causes weakness that starts in the lower arms and legs (the distal muscles) and may gradually spread to affect other parts of your body. DD usually appears between ages 40 and 60 but it can sometimes show as early as the teenage years.

Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin. DMD is one of four conditions known as dystrophinopathies.


Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS including processes such as breathing, pupil dilation, and the heartbeat.


Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. The movements may be painful, and some individuals with dystonia may have a tremor or other neurologic features.


The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe. The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria.

Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement and the heart. Among the earliest features are joint deformities noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in the upper arms and lower legs.

Episodic ataxia

Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance. During these episodes, many people also experience dizziness, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears.

Fabry disease

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body including pain in the hands and feet and hearing loss.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by muscle weakness and wasting. This condition gets its name from the muscles that are affected most often: those of the face, around the shoulder blades, and in the upper arms. The signs and symptoms of FSHD usually appear in adolescence.

Friedreich ataxia

Friedreich ataxia (FA) is a rare inherited disease that causes progressive nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time.

Juvenile amyotrophic lateral sclerosis (ALS)

Juvenile amyotrophic lateral sclerosis (JALS) is a rare motor neuron disease characterized by progressive degeneration of upper and lower motor neurons. Symptoms of JALS typically begin before age 25, but often in early childhood. Symptoms include facial spasticity, dysarthria, and a spastic gait.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The most affected are those closest to the body specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

McArdle disease (GSD V)

Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.


Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (. Seven forms and numerous subtypes of mucopolysaccharidosis have been identified.

Muscular dystrophies

Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle. There are many different kinds of muscular dystrophy.

Myasthenia gravis

Myasthenia gravis is a chronic autoimmune neuromuscular disease that causes weakness in the skeletal muscles including the arms and legs. The hallmark of myasthenia gravis is muscle weakness that worsens after periods of activity and improves after periods of rest.

Myotonic dystrophy

Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions and are not able to relax certain muscles after use. Also, affected people may have slurred speech or temporary locking of their jaw.

Paramyotonia congenita

Paramyotonia congenita affects skeletal muscles. Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing. Myotonia causes muscle stiffness that typically appears after exercise, can be induced by muscle cooling and tends to worsen with repeated movements.

Pompe disease (GSD II)

Glycogen storage disease type 2 (also known as GSDII, Pompe disease, or acid maltase deficiency disease) is disorder caused by the buildup of glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

Rippling muscle disease

Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure. A bump or other sudden impact on the muscle causes it to bunch up or exhibit repetitive tensing.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is characterized by weakness and wasting in muscles used for movement. It is caused by a loss of specialized nerve cells that control muscle movement. The weakness tends to be more severe in the muscles that are close to the center of the body. The muscle weakness usually worsens with age.

Von Gierke disease (GSDI)

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

X-linked myotubular myopathy

X-linked myotubular myopathy (XLMTM) primarily affects muscles used for movement. People with this condition have muscle weakness and decreased muscle tone that are usually evident at birth. The muscle problems impair the development of motor skills and may disrupt breathing and feeding.