Disorders We Treat

Our work focuses on Neuromuscular Disorders in both children and adults. The disorders we treat include all forms of muscular dystrophy, spinal muscle atrophy, and hereditary neuropathies. The list below includes links to information about each disorder.

Channelopathies

Channelopathies are diseases that result when ion channels for the body’s cells don’t work properly, making it hard for an individual to have control over their muscle movements.

 

Myotonia Congenita is a disease that affects the muscles used for movement, or skeletal muscles. Individuals with Myotonia Congenita experience weakening and myotonia, especially in leg muscles. Thomsen disease and Becker disease, which differ in onset and severity, are the two major types of Myotonia Congenita.

 

Paramyotonia Congenita (Eulenberg Disease) typically begins during infancy or childhood. It causes stiffness in the muscles that worsens with repeated movement. It also induces bouts of myotonia, especially when the muscles are exposed to cold temperatures.

 

Periodic Paralysis Disease causes recurring periods of severe muscle weakness. It can also cause abnormal rhythms in the heart, which are called arrhythmias. There are two main types of periodic paralysis: hyperkalemic paralysis and Andersen-Tawil syndrome.

 

Congenital Muscular Dystrophies and Myopathies

Congenital Muscular Dystrophies are present from birth. This disease is inherited, meaning it is passed down from parent to child genetically.
Myopathies are diseases that cause complications in how skeletal muscles contract and move. Skeletal muscles are essential for voluntary movements like walking, sitting, and chewing.

 

Merosin Deficient Congenital Muscular Dystrophy severely weakens skeletal muscles, and causes them to atrophy. Usually this condition presents at birth because the underlying cause is genetic: the LAMA2 gene is mutated. Many individuals with this disorder will need equipment to help their muscles function better.

 

Collagen VI Related Muscular Dystrophies (Collagen VI-RD) cause muscle weakness due to mutated collagen genes. A few of the affected genes in this disease are COL6A1, COL6A2, and COL6A3. The mildest type is Bethlem myopathy, and the most severe type is Ullrich congenital myopathy.

 

Laminopathy is a large division of disorders that result from abnormality in the LMNA gene.

 

Nemaline Myopathies are disorders that create weakness in the skeletal muscles, most severely in the face, neck, and limbs. These disorders are caused by mutations in the genes ACTA1, KBTBD13, CFL2, KLHL40, NEB, TNNT1, TPM2, and TPM3.

 

Centronuclear Myopathy is a rare condition that causes muscle weakness and varies in onset from birth to adulthood. People with this disorder may have droopy eyelids, abnormally shaped feet, or unusual spinal curvature. This disorder is caused by mutations in the BIN1, DNM2, and MTM1 genes.

 

Hereditary Neuropathies

Hereditary Neuropathies are genetic disorders that affect the peripheral nervous system, which refers to the system of nerves in the body beyond the brain and spinal cord.

 

Charcot Marie Tooth Disease is one of the more common inherited nerve diseases. It attacks both sensory and motor neurons in the peripheral nervous system, making it difficult for signals to get from the brain to the limbs or vice versa.

 

Spinal Muscular Atrophy (SMA) is a genetic disorder that is most commonly found in infants and children. It affects the motor neurons in the spinal cord, making it difficult for the brain to communicate with the muscles in the body.

 

Friedreich’s Ataxia is a very rare disease which weakens the lower limb muscles first, then slowly spreads to the upper limbs. Walking, hearing, and seeing can become difficult for individuals with this condition.

 

Spinal-Bulbar Muscular Atrophy weakens muscles in the limbs and bulbar muscles, which are in the face and throat. It affects motor neurons running from the brain to the affected muscles. Symptoms typically emerge during an individual’s adult years.

 

Inflammatory Myopathies

Inflammatory Myopathies are conditions that cause chronic muscle inflammation and weakness, which can lead to muscle pain.

 

Polymyositis causes chronic weakness in proximal muscles, which are close to the body. It can make it difficult to do things that require these muscles, such as climbing stairs, standing up, or lifting objects. Breathing and swallowing may also become difficult for individuals with this condition.

 

Dermatomyositis is similar to polymyositis, also causing weakness in proximal muscles like muscles in the hips, thighs, and neck. Unlike polymyositis, dermatomyositis involves a red or purple rash that appears on the knees, elbows, knuckles or eyelids.

 

Inclusion Body Myositis causes gradual and progressive muscle inflammation and weakness. Sometimes, only muscles on one side of the body are affected. It can also cause difficulty with swallowing. Symptoms are usually noticed later in life, beyond the age of 50.

 

Metabolic Diseases of Muscles

Metabolic Diseases of Muscles are characterized by disruptions in the body’s natural metabolic processes. These conditions change the process of breaking down sugars, fats, and carbohydrates, which can cause muscle impairment.

 

Acid Maltase Deficiency (Pompe Disease) is a rare genetic disorder that disrupts the processing of carbohydrates, leading to a damaging buildup of glycogen in tissues. This can cause muscle weakness and hypotonia.

 

Carnitine Deficiency prevents the metabolization of fats for energy because carnitine is necessary for this process. This leads to severe symptoms, which vary considerably between affected individuals.

 

Carnitine Palmityltransferase Deficiency makes it difficult for the body to metabolize fats, leading to severe symptoms. These problems are made worse by periods of fasting.

 

Debrancher Enzyme Deficiency (Cori or Forbes Disease) creates a buildup of glycogen that impairs liver function, causing swelling of the liver and low blood sugar levels. Occasionally, some individuals may experience seizures.

 

Lactate Dehydrogenase Deficiency harms the metabolization process of sugar in the body’s cells, especially muscle cells. This deficiency can cause exercise intolerance, meaning that individuals can experience muscle cramping, fatigue, and pain while exercising.

 

Myoadenylate Deaminase Deficiency affects the body’s ability to process an essential energy molecule called adenosine triphosphate (ATP). While exercising, individuals may experience muscle cramping and pain.

 

Phosphofructokinase Deficiency (Tarui Disease) impairs how your body breaks down carbohydrates, which are used for energy. Similar to other metabolic conditions, it can create pain and muscle cramping during exercise. Also, it can cause the urine to turn brown, which is called myoglobinuria.

 

Phosphoglycerate Kinase Deficiency makes it difficult to break down glucose, a simple sugar that is the primary source of energy for the body’s cells. Chronic hemolytic anemia can be caused by this deficiency, leading to jaundice, shortness of breath, fatigue, and rapid heartbeat.

 

Phosphoglycerate Mutase Deficiency affects the muscles in the body used for movement (skeletal muscles). Usually symptoms start to develop during childhood or teenage years, and can include muscle aches and cramping prior to exercise. It can also lead to myoglobinuria, a condition that causes abnormal tissue break down in the muscles.

 

Phosphoglycerate Deficiency (McArdle Disease) affects the body’s ability to metabolize glycogen. Glycogen is an important energy source for the body. Symptoms caused by this deficiency include fatigue, muscle pain, and weakness.

 

Mitochondrial Myopathies

Mitochondrial Myopathies are neuromuscular diseases that are caused by the mitochondria inside the cells becoming damaged. Mitochondria create energy for cells, so when they are damaged an individual’s muscles can become weak.

 

Kearns-Sayre Syndrome (KSS) typically begins to show symptoms in individuals before they reach 20. This condition weakens the eyes, restricting eye movement and causing drooping eyelids. In some cases, it can cause kidney problems, limb muscle weakness, difficulty coordinating movements, and keeping your balance.

 

Leigh Syndrome (Subacute Necrotizing Encephalomyopathy) and Maternally Inherited Leigh Syndrome (MILS) most commonly appear in infants and young kids. Both of these conditions can cause severe muscle issues, kidney problems, and developmental disabilities.

 

Mitochondrial DNA Depletion Syndrome (MDS) usually begins to affect individuals in early childhood, and gradually decreases muscle function over time.

 

Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) is a disease that harms the brain, muscles, and nervous system. Symptoms begin at any age, but by age 40 a majority of individuals with MELAS will have experienced a stroke-like episode.

 

Mitochondrial Neurogastrointestinal Encephalomyopahty (MNGIE) is a disease that primarily damages the digestive system. Symptoms of MNGIE include vomiting, nausea, trouble swallowing, and satiety (feelings of fullness) after only small amounts of food.

 

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) is a condition that primarily affects muscles in the body and the nervous system. Symptoms vary considerably among individuals with MERRF, even those who are related.

 

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) affects the nervous system by causing muscle weakness as well as pain or tingling in the extremities. Individuals with NARP may also experience difficulty walking and maintaining balance. In many cases vision loss from retinitis pigmentosa also occurs.

 

Pearson Syndrome affects the body’s ability to effectively break down and absorb food. It can cause severe diarrhea and can resemble symptoms of Leigh Syndrome.

 

Progressive External Ophthalmoplegia (PEO) impairs the muscles of the eyes and eyelids. Moving and opening the eyes becomes very difficult.

 

Muscular Dystrophies

Muscular Dystrophies cause progressive muscle weakening and muscle atrophy, making daily activities difficult.

 

Duchenne Muscular Dystrophy (DMD) is the most common type of muscular dystrophy. Muscle function needed for daily activities gradually decreases. Heart problems and obesity are also often linked to this disease. There is no known cure for DMD, but treatment of the disorder can maximize functional ability and prevent deformity.

 

Becker Muscular Dystrophy (BMD) has similar symptoms to DMD, but usually appears later and is less severe.

 

Emery-Dreifuss Muscular Dystrophy (EDMD) primarily impacts the heart muscles and skeletal muscles. Progression begins in the upper arm and lower leg muscles and gradually moves to other areas. It is not as common as Duchenne or Becker.

 

Facioscapulohumeral Dystrophy (FSHD) causes muscle weakness, especially in the facial muscles, shoulder muscles, and upper arm muscles. Symptoms usually begin to show by age 20.

 

Limb-Girdle Muscular Dystrophy (LGMD) is characterized by weakness in the muscles of the shoulders, upper arms, and pelvic girdle. In some cases the heart and diaphragm can be affected. Onset of this condition varies from childhood to late adulthood.

 

Oculopharyngeal Muscular Dystrophy (OPMD) is a rare muscular disorder that typically doesn’t affect patients until after age 40. OPMD weakens the facial muscles, especially around the eyes, and can also make swallowing difficult.

 

Myotonic Muscular Dystrophy

-Type 1 MMD (MMD1) is the most frequently occurring form of muscular dystrophy that begins in adulthood. It is mainly characterized by prolonged muscle contractions; for example, an individual may experience difficulty releasing a gripped object. Patients with MMD1 may also experience slurred speech and temporary locking of the jaw.

-Type 2 MMD (MMD2) is very similar to Type 1, but is usually less severe.