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MDA-CMT Booklet

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  • 1. Facts AboutCharcot-Marie-Tooth Disease& Related DiseasesUpdated December 2009
  • 2. Dear Friends: to teach — is that people with disabilities I ’ve lived with Charcot-Marie-Tooth disease (CMT) since my early 20s — more than half my life. The disease has are — like everyone else — full of pos- sibilities and gifts. These, not our limita- tions, are what matter. progressed slowly over the years, mostly affecting my lower legs and hands, so that Another important extended family in my now I use a manual wheelchair part time. life is the Muscular Dystrophy Association, In those years, I’ve continued a career which offers a great program of services, in computer technology, started a small leads the world in CMT research and business, pursued my interests in art and keeps us well informed about the disease. photography, married, and contributed my See “MDA is Here to Help You,” on page knowledge and experience to others with 12, for details of the Association’s pro- disabilities. gram. This booklet has been prepared to give While MDA’s research program continues you the basic knowledge about CMT and making strides toward better treatments Dejerine-Sottas disease (DS) that you’ll and a cure, it’s good to know that people need in order to help you prepare for with disabilities have more opportuni- changes that may occur in your future. ties than ever before to develop and use You’ll learn that CMT is usually quite slow their abilities, and that the laws entitle us in progression and that, while it presents to equal employment opportunities and challenges in daily life, there are many access to public places. techniques and devices to help you adapt to those challenges. As you face the challenges ahead, remem- ber, MDA and all its resources are there You’ll read that many different genetic to help you and your family. You’re not causes of CMT have been found, and alone. cases vary greatly. But CMT is almost never life-threatening, and it seldom George J. Donahue affects the heart and breathing functions. Watertown, Massachusetts And it doesn’t affect intelligence or the spirit. I know of many productive, suc- cessful people with CMT — doctors and scientists, artists and singers, athletes and teachers, active teens and students. I know children with CMT who have bright futures. We’ve all learned to strike a bal- ance between adapting to our limitations and surroundings, and living a fulfilling life despite them. I have the wonderful support of my family and great friends. I’m involved in volun- teer projects that help young people with disabilities, advising them on indepen- dence and entrepreneurship, and raising public awareness about disability wherever I go. What I’ve learned — and what I try2 CMT • ©2009 MDA
  • 3. What is Charcot-Marie-Tooth Disease? C harcot-Marie-Tooth disease (CMT) is a neurological disorder, named after the three physicians who first Because of these features, CMT is sometimes called hereditary motor and sensory neuropathy (HMSN). Some described it in 1886 — Jean-Martin doctors also use the old-fashioned Charcot and Pierre Marie of France, name peroneal muscular atrophy, and Howard Henry Tooth of the United which refers to wasting of the peroneal Kingdom. Although most people have muscle in the lower leg. never heard of CMT, it affects some 115,000 Americans. There are even more names for CMT because the disease exists in many dif- Unlike other neurological disorders, ferent forms, each unique in its sever- Brain CMT usually isn’t life-threatening, and it ity, age of onset, progression and exact almost never affects the brain. It causes symptoms. For example, Dejerine- Spinal cord damage to the peripheral nerves — Sottas disease (DS) is a severe form of tracts of nerve cell fibers that connect CMT that manifests during infancy or the brain and spinal cord to muscles early childhood. and sensory organs. Although there’s no cure for CMT, Peripheral nerves control movement by there are treatments that can be used Arm relaying impulses from the spinal cord to to effectively manage its symptoms. muscle muscles. They convey sensation by car- Those treatments, described here along rying feelings like pain and temperature with a general overview of CMT, have from the hands and feet to the spinal allowed many people with the disease cord. They also help control balance, by to lead active, productive lives. carrying information about the position of the body in space. They transmit infor- What causes CMT? mation about the feet and hands to theHand CMT is caused by defects in genes, spinal cord and then the brain, so that themuscle which are segments of DNA contained Peripheral brain knows where to place the feet when nerves in the chromosomes of the body’s walking and where the hands should be cells. Genes are recipes for making placed to reach for something.Leg (peroneus) the proteins that serve essential func-muscle Nerve damage, or neuropathy, causes tions in our bodies. Each form of CMT muscle weakness and wasting, and is linked to a specific gene, and all of Foot some loss of sensation, mostly in the those genes make proteins found within muscle extremities of the body: the feet, the the peripheral nerves. lower legs, the hands and the forearms. Peripheral nerves provide an essential CMT causes degeneration of the peripheral relay between your brain and the rest of Although CMT can look very similar nerves, leading to muscle weakness in the body’s extremities. to an acquired neuropathy — a type your body. When you decide to move of nerve damage caused by diabetes, your leg, your brain sends an electrical immunological abnormalities or expo- signal to muscle-controlling nerve cells sure to certain chemicals or drugs — it in your spinal cord, which then use the isn’t caused by anything a person does, peripheral nerves to pass the signal on and it isn’t contagious. It’s hereditary, to your leg muscles. meaning that it can be passed down And if you hurt your leg, you feel it through a family from one generation because pain-sensitive nerve cells there to the next. (See “Does it Run in the Family?” page 10.) 3 CMT • ©2009 MDA
  • 4. have sent a signal through your periph- Nerves other than those that go to and eral nerves to your brain. from the extremities can be affected at the severe end of the CMT spectrum. If The peripheral nerves are made up of the nerves that go to and from the dia- fibers, or axons, that extend from sen- phragm or intercostal (between the ribs) sory nerve cells and muscle-controlling muscles are affected, respiratory impair- nerve cells, and carry electrical signals ment can result. to and from the spinal cord. In order for you to move and react with What happens to someone precision and speed, axons have to with CMT, and how is it transmit their signals within a fraction treated? Nerve cell of a second. This is a real challenge for axons that have to stretch over long Partly because there are different types distances, like the ones connected to of CMT, the exact symptoms vary greatly Schwann from person to person. This section pro- cell/Myelin muscles in your fingers and toes. vides a general picture of CMT, and the Axon To give axons a performance boost, each next section describes different types of one is surrounded by a coating called the disease. myelin. Similar to the way plastic coat-Muscle fiber Muscle weakness ing is used to insulate electrical wiring, myelin insulates the electrical signals in In general, people with CMT experience axons. It also provides essential nourish- slowly progressive weakness and wast- ment to the axons. ing in the distal muscles, which control the extremities. These muscles control Some 20 genes have been implicated foot and hand movements. More proxi- in CMT, each one linked to a specific mal muscles, those closer to the trunk, type (and in many cases, more than one such as the leg and arm muscles, are type) of the disease. (See “What are the rarely affected. different types of CMT?” page 7.) Some of those genes make proteins needed Usually, weakness begins in the feet in axons, and others make proteins and ankles, and manifests itself as foot needed in myelin. drop — difficulty lifting the foot at thePeripheral nerves control movement byrelaying impulses from the spinal cord (not ankle, so that the toes point downwardshown) to the muscles (shown in the fore- Defective myelin genes can cause a during walking. Foot drop causesarm). They also convey sensation and help breakdown of myelin (called demyelin- frequent tripping, and with increasingwith balance and awareness of the body’s ation) while defective axon genes can weakness and attempts at compensa-position. cause an impairment of axon function tion, the affected person develops anA single movement-controlling peripheral (axonopathy). abnormal gait.nerve is composed of many long nervecell branches — or axons — that extendfrom the spinal cord and connect to muscle In either case, the end result is the Many people with CMT make their firstfibers. Each axon is surrounded by myelin same: Defects in the axon or the visits to a neurologist after they noticemade from the wrappings of Schwann myelin cause progressive damage to frequent trips and falls, ankle sprains,cells. the axons. or ankle fractures, caused by foot drop. The longest axons in the body are When these problems occur, some especially sensitive to damage, which people find they can overcome them explains why CMT mostly causes motor just by wearing boots or high-top and sensory problems in the body’s shoes to support the ankles. extremities. Others might require leg braces, such as an ankle-foot orthosis (AFO), a 4 CMT • ©2009 MDA
  • 5. removable cast that fits snuggly around you should have your breathing checked the foot and ankle. Once made of clunky by a specialist, who might recommend metal struts that required special shoes, occasional or nighttime use of a device AFOs are now made of lightweight plastic that delivers air under pressure into the that’s custom-molded to fit the wearer’s lungs. legs, and can be worn underneath pants and tennis shoes. Although it’s usually too slight to cause disability or discomfort, some people with For people with more proximal weak- CMT experience tremor (involuntary shak- ness, there’s the knee-ankle-foot orthosis ing). CMT with obvious tremor is some- (KAFO), which extends up the leg, just times called Roussy-Levy syndrome. above the knee. They usually can be worn under trousers. Some orthoses allow Contractures and bone deformities movement of the ankle or knee, while oth- Many people with CMT eventually develop ers prevent movement to add more sup- contractures (stiffened joints) that result in port. deformities of the feet and hands.A doctor examines a patient with footdrop. Most people with CMT won’t need a The contractures occur because as some wheelchair or motorized scooter, but an muscles around a joint weaken, others older person with advanced CMT or some- remain strong, contracting and pulling on one with a severe type might require one the joint. Over time, the bones around the of these to get around, especially when joint shift into abnormal positions. traversing long distances. Like AFOs, For example, as muscles that lift the foot wheelchairs aren’t what they used to be. at the ankle become weak, muscles that There are wheelchairs that can be used on lower and curl the foot downward contract almost any terrain — from shopping mall and tighten, causing the most common to hiking trail — many of them powered type of foot deformity — a shortened foot by the flip of a switch. with a high arch (pes cavus). As the con- Late in the course of CMT, many people tracture gets worse, the toes can become experience weakness in the hands and locked in a flexed position. forearms, and have difficulty with grip- A small fraction of people with CMT devel- ping and fine finger movements, such as op “flat feet” (pes planus), presumably turning doorknobs, and buttoning and zip- because of a different pattern of muscle pering clothes. Often, these problems can weakness. be overcome with occupational therapy, which helps people accomplish the “job” During walking, these deformities can of daily living through the use of assistive cause unusual friction against the toes, devices. heel and ball of the foot, leading to pain- ful abrasions, blisters and calluses. If left For example, an occupational therapist untreated, the contractures and secondary might recommend that you put special abrasions tend to worsen over time, mak- rubber grips on your home’s doors, or ing it increasingly difficult to walk. buy clothes that fasten with Velcro or snaps. Your MDA clinic can refer you to As CMT progresses, contractures in theCustom-made AFOs help with foot drop. an occupational therapist. hand can lock the fingers in a flexed posi- tion, and in rare cases severe proximal Weakness of the respiratory muscles weakness can lead to scoliosis (side-to- is rare in people with CMT, but when it side curvature of the spine) or kyphosis occurs it can be life-threatening. If you (front-to-back spine curvature). regularly experience shortness of breath, 5 CMT • ©2009 MDA
  • 6. A small fraction of people with severe Paradoxically, some people with CMT CMT also experience hip displacement at experience more pain — a combination of an early age. painful muscle cramps and neuropathic pain. This pain isn’t caused by an external One of the most effective ways to keep trigger, but by defective signals in sensory muscles from tightening up and forming axons. Both types of pain usually can be contractures is to begin a regular program alleviated with medication. of physical therapy, which usually consists of low-impact exercises and stretching. In many people with CMT, sensory loss is associated with dry skin and hair loss in Your MDA clinic can help get you started the affected area. on an individualized physical therapy pro- gram. In rare cases, sensory loss can include gradual hearing impairment and some- Foot contractures also can be delayed by times deafness. Watching out for these using AFOs, which force the feet into a potential problems will enable you to seek normal position and decrease stress on appropriate treatment if necessary. the ankles. Similarly, splints can be used to prevent unintended flexing of the toes Drug warning and fingers. The use of certain prescription drugs or excess alcohol can lead to acquired neu-Foot contractures resulting in high- If these methods fail and severe contrac- ropathy, and thus might exacerbate CMT.arched feet often occur in CMT. tures occur, surgery can be used to loos- Case studies have shown that the chemo- en up tight muscles and tendons, or to therapy drug vincristine can cause rapid correct bone deformities. Surgery is often deterioration in people with CMT. necessary for advanced scoliosis. When taking a prescription drug for the Sensory loss and associated symptoms first time, it’s a good idea to consult your Because CMT causes damage to sensory doctor about its possible effects on CMT. axons, most people with CMT have a Or, enter the specific name of the drug decreased sensitivity to heat, touch and into an Internet search engine, along with pain in the feet and lower legs. the words “prescribing information,” to Although people with CMT often complain receive a full explanation of what the drug that their feet get cold (caused as much by does and what its side effects may be. a loss of insulating muscle as by damage You’re unlikely to see anything specificHand contractures can occur late in the to sensory axons), most of these sensory about CMT. However, if the medication’scourse of CMT. losses are undetectable except by a neu- side effect description mentions words rological exam — but it’s important to like neuropathy, paresthesias, neuropathic recognize that they occur. pain or peripheral nerve damage, you may Combined with the regular abrasions want to consult your physician about its caused by foot deformities (see page 5), use in CMT and possible alternatives. the lack of pain sensitivity makes people Lists of contraindicated (forbidden) drugs with CMT at risk for developing ulcer- for people with CMT are often composed ations — wounds that have gone unno- mostly of medications used to treat seri- ticed and become severely infected. If you ous conditions, such as cancer. In these have CMT, and especially if you have any cases, there may be no alternative to tak- foot deformities, you should check your ing the drug, with the awareness that CMT feet regularly for injuries. symptoms may worsen. 6 CMT • ©2009 MDA
  • 7. What are the different Features: CMTX has symptoms similar to those of types of CMT? CMT1 and CMT2. Because of its linkage The many different types of CMT are dis- to the X chromosome, it often affects tinguished by age of onset, inheritance males more severely than females. pattern, severity, and whether they’re linked to defects in axon or myelin. CMT4 Onset: While those distinctions are useful, infancy, childhood or adolescence it’s important to realize that, because Inheritance: of the vast number of genetic defects autosomal recessive that can lead to CMT, some people fall Features: on the borders between different types CMT4, a demyelinating form of CMT, and many have specific “subtypes” not causes weakness, usually mostly dis- detailed here. tal, but sometimes involving proximal muscles. Sensory dysfunction can also (For more information about the genet- occur. When CMT4 begins in infancy, ics and inheritance of CMT, see “Does it it’s characterized by low muscle tone. Run in the Family?” page 10.)Schwann cell Young children with CMT4 generally CMT1 and CMT2 have delayed motor (movement-related) Axon Onset: development. usually childhood or adolescence Dejerine-Sottas Disease Inheritance: Onset: type 1, autosomal dominant; type 2, early childhood (generally before 3 autosomal dominant or recessive years) Myelin Features: Inheritance: These are the two most common autosomal dominant or recessive forms of CMT. (In fact, a subtype Features:For axons and Schwann cells, communica- called CMT1A, caused by a defect intion is the key to a healthy relationship. DS is sometimes classified as a sub- the PMP22 gene on chromosome 17,Axons send chemical messages that attract group of CMT4 and is also sometimesSchwann cells and encourage myelin for- accounts for around 60 percent of all called HMSN3. It’s a severe neuropathy,mation, and Schwann cells appear to send CMT cases.)messages that nourish and protect axons. with generalized weakness sometimesThe various genetic defects that cause CMT CMT1 is caused by demyelination, and progressing to severe disability, loss ofoften disrupt these interactions. sensation, curvature of the spine and CMT2 is caused by axonopathy, but both produce the classic symptoms described sometimes mild hearing loss. above. Several of the genes that, when flawed, CMT2 is sometimes associated with a cause Dejerine-Sottas disease, are the treatable condition called restless legs same genes that, when flawed in a dif- syndrome, an irresistible urge to move ferent way, lead to various forms of the legs while sitting or lying down. CMT. CMTX Onset: childhood or adolescence Inheritance: X-linked 7 CMT • ©2009 MDA
  • 8. Congenital Hypomyelinating physical exam to look for further signs of Neuropathy (CHN) distal weakness and sensory loss. Onset: As a test for leg weakness, the neurolo- congenital (at or near birth) gist might ask the patient to walk on his Inheritance: heels, or to move part of his leg against autosomal recessive, spontaneous an opposing force. Features: Unlike other types of CMT, CHN is asso- To look for sensory loss, the neurologist ciated with reduced myelin formation will usually test the patient’s deep tendon (hypomyelination) from birth rather than a reflexes (like the knee-jerk reflex), which breakdown of existing myelin. Both geneti- are reduced or absent in most people with cally and clinically, it’s similar to DS, but CMT. usually has an earlier onset and a nonpro- gressive or slowly progressive course. During this initial evaluation, the neurolo- gist also will ask about the patient’s fam- Many children with CHN grow up and ily history. A family history of CMT-like experience gradual improvements in symptoms, combined with signs of nerve strength. damage from the individual’s physical exam, strongly point to CMT or another How is CMT diagnosed? hereditary neuropathy. A combination of lower leg weakness and Lack of a family history doesn’t rule out foot deformities is a red flag for CMT, CMT, but might prompt the neurologist but isn’t sufficient for diagnosis. When to ask about diabetes, overexposure to a patient has those symptoms, a well- certain drugs and other potential causes of trained neurologist will usually start with a neuropathy.Adults and children with CMT findmany ways to remain independent. Axons, Myelin and CMT Myelin T here are more than 30 genes that, when flawed, can cause CMT or Dejerine-Sottas disease. Many carry hat, ry instructions for structural compo- nents of the axon (nerve fiber) or of the myelin sheath that sur- rounds it. Myelin structural components Axon Peripheral myelin protein 22 (PMP22) — CMT1(A), DS*, CMT4 Controls Schwann cell division. Axon structural components Myelin protein zero (MPZ, or P0) — CMT1(B), CMT2, DS*, CMT4 Neurofilament-light Holds layers of myelin together. (NF-L) — CMT2 (single large Russian family) Acts as backbone and conveyor belt within Connexin 32 (Cx32, a.k.a. GJB1) — axon. CMTX Forms pores between layers of myelin. *DS = Dejerine-Sottas 8 CMT • ©2009 MDA
  • 9. Next, if the diagnosis is still consistent with CMT, the neurologist may arrange for genetic testing. These tests, done by drawing a blood sample, are designed to detect the most common genetic defects known to cause CMT. Many, but certainly not all, of the genetic mutations underly- ing CMT can be detected with a DNA blood test. A positive genetic test result can provide a definite diagnosis and useful informa- tion for family planning. But once again, a negative result doesn’t rule out CMT. The neurologist also may perform a nerve conduction velocity (NCV) test, which measures the strength and speed of elec- trical signals transmitted through nerves. It’s done by placing surface electrodes, similar to those used for electrocardio- grams, on the skin at various points over a nerve. One electrode delivers a mild shock that stimulates an electrical response in the nerve, and the others record this response as it travels through the nerve. Delayed responses are a sign of demyelin- ation and small responses are a sign of axonopathy. Thus, NCV is often used toDoctors have many tests for diagnosingCMT. distinguish between CMT1 and CMT2. Other procedures sometimes used to diagnose CMT include electromyography (EMG), which measures the electrical signals in muscles, and less commonly, nerve biopsy, which involves the removal and examination of a small piece of nerve. 9 CMT • ©2009 MDA
  • 10. Does it Run in the Family? These are called spontaneous mutations, C MT can run in a family, even when there’s no obvious family history of it. In part, this is because CMT can be and after they occur, they can be passed on to the next generation. inherited in three different ways that aren’t always easy to trace through a family tree: Your risk of inheriting or passing on CMT X-linked, autosomal dominant and autoso- depends largely on what type of CMT you mal recessive. have (see “What are the different types of CMT?” page 7.) A good way to find out X-linked means that the genetic defect more about this risk is to talk to your MDA (or mutation) is located on the X chro- clinic physician or a genetic counselor at mosome. In females, who have two X the MDA clinic. Also, see MDA’s booklet chromosomes, a normal copy of the gene “Facts About Genetics and Neuromuscular on one chromosome can often compen- Diseases.” sate (at least partially) for the defective copy. Therefore, X-linked diseases usually affect males more severely than females, beccause males only have one X chromo- some. X-linked diseases (like CMTX) can’t be passed from father to son. Autosomal means the mutation occursCMT can be inherited in on a chromosome other than the X orthree different ways that Y. Therefore, autosomal diseases affectaren’t always easy to trace males and females equally. Autosomalthrough a family tree. recessive means that two copies of a defective gene are required for the full- blown disease. One copy is inherited from each parent, neither of whom would normally have the disease. Autosomal dominant means one copy of a defective gene is enough to cause disease. A per- son who inherits the defective gene from a parent will have the disease, as will the parent. When CMT is passed on in an autoso- mal dominant pattern, it can be easy to recognize in the family tree. In contrast, X-linked or autosomal recessive types of CMT might seem to occur “out of the blue.” But in reality, the mother or both parents might be carriers who silently har- bor a genetic mutation. Many parents have no idea they’re carriers of a disease until they have a child with the disease. CMT also can occur when a new muta- tion occurs during the child’s conception. 10 CMT • ©2009 MDA
  • 11. MDA’s Search for Treatments and Cures mation about CMT provided by patients T he MDA Web site is constantly updated with the latest information about the neuromuscular diseases in its program. and families. (See http://neurology.med. wayne.edu/neurogenetics/na_database. See the latest research news at www.mda. php.) MDA also is supporting the North org/whatsnew. American CMT Network, an extension to the Database designed to provide an infra- In 1991, the genetic causes of CMT were structure for CMT research. completely unknown. But just 10 years later, MDA-funded scientists had helped to identify 10 CMT-linked genes and found evidence for several others. (There are now thought to be some 30 genes in which flaws can cause CMT.) This accom- plishment has led to genetic testing for many types of CMT, which has greatly improved diagnosis. Of equal importance, the ongoing hunt for CMT genes has given insights into treatments that might be used to stop or reverse the disorder. As the CMT gene hunt continues, MDA-funded scientists are investigating how and why specific genetic mutations lead to different types of CMT. These insights are expected to lead to improved ability to predict the course of CMT in specific individuals and ultimately to lead to treatments. In addition, MDA-funded scientists have made significant progress in understand- ing the biology of axons and Schwann cells — the cells that make myelin in the peripheral nerves. The goal is to restore normal myelin maintenance. One scientist is conducting laboratory experiments to see whether a compound called heat shock protein 90 might be therapeutic in the type 1A form of CMT, while others are conducting an MDA- funded clinical trial to test the effects of high-dose ascorbic acid on CMT1A. In addition to these specific projects, MDA is supporting the CMT North American Database, a secure repository of infor-11 CMT • ©2009 MDA
  • 12. MDA is Here to Help You Everyone registered with MDA automati- T he Muscular Dystrophy Association offers a vast array of services to help you and your family deal with CMT. cally receives Quest, MDA’s award-win- ning quarterly magazine. Quest publishes The staff at your local MDA office is detailed articles about research findings, there to assist you in many ways. The medical and day-to-day care, helpful Association’s services include: products and devices, social and family issues, and much more. Other MDA pub- • nationwide network of clinics staffed by lications can be found at www.mda.org/ top neuromuscular disease specialists publications; many booklets are available in Spanish. Ask your local office for “MDA • MDA summer camps for kids with Services for the Individual, Family and neuromuscular diseases Community” and for help with obtaining • help with obtaining durable medical copies of other publications. equipment through its national equip- If you have any questions about CMT, ment loan program someone at MDA will help you find the • financial assistance with repairs to all answer. To reach your local MDA office, types of durable medical equipment call (800) 572-1717. • annual occupational, physical, respira- tory and speech therapy consultations • annual flu shots • support groups for those affected, spouses, parents or other caregiversOn the cover:TyKiah Wright of Columbus, Ohio, has • online support services through thebeen affected by CMT since childhood. e-community myMDA and throughNow 32 myMuscleTeam, a program that helps recruit and coordinate in-home help MDA’s public health education program helps you stay abreast of research news, medical findings and disability information through magazines, publications, edu- cational speakers, seminars, videos and newsletters. MDA’s Web site at www.mda.org contains thousands of pages of valuable informa- tion, including disease specifics, research findings, clinical trials and past magazine articles. 12 CMT • ©2009 MDA
  • 13. MDA’s Purpose and Programs Metabolic Diseases of Muscle T he Muscular Dystrophy Association fights neuromuscular diseases through an unparalleled worldwide research effort. Phosphorylase deficiency (McArdle disease) Acid maltase deficiency (Pompe disease) The following diseases are included in Phosphofructokinase deficiency MDA’s program: (Tarui disease) Debrancher enzyme deficiency Muscular Dystrophies (Cori or Forbes disease) Myotonic dystrophy (Steinert disease) Mitochondrial myopathy Duchenne muscular dystrophy Carnitine deficiency Becker muscular dystrophy Carnitine palmityl transferase deficiency Limb-girdle muscular dystrophy Phosphoglycerate kinase deficiency Facioscapulohumeral muscular dystrophy Phosphoglycerate mutase deficiency Congenital muscular dystrophy Lactate dehydrogenase deficiency Oculopharyngeal muscular dystrophy Myoadenylate deaminase deficiency Distal muscular dystrophy Emery-Dreifuss muscular dystrophy Myopathies Due to Endocrine Abnormalities Motor Neuron Diseases Hyperthyroid myopathy Amyotrophic lateral sclerosis (ALS) Hypothyroid myopathy Infantile progressive spinal muscular atrophy Other Myopathies (Type 1, Werdnig-Hoffmann disease) Myotonia congenita Intermediate spinal muscular atrophy Paramyotonia congenita (Type 2) Central core disease Juvenile spinal muscular atrophy Nemaline myopathy (Type 3, Kugelberg-Welander disease) Myotubular myopathy Adult spinal muscular atrophy (Type 4) Periodic paralysis Spinal-bulbar muscular atrophy (Kennedy disease) Inflammatory Myopathies Polymyositis Dermatomyositis Inclusion-body myositis Diseases of Neuromuscular Junction Myasthenia gravisMDA’s Web site is constantly Lambert-Eaton (myasthenic) syndromeupdated with the latest information Congenital myasthenic syndromesabout the diseases in its program. Diseases of Peripheral NerveGo to www.mda.org. Charcot-Marie-Tooth disease Friedreich’s ataxiaJerry Lewis, National Chairman Dejerine-Sottas diseasewww.mda.org • (800) 572-1717©2009, Muscular DystrophyAssociation Inc. 13 CMT • ©2009 MDA