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Charcot-Marie-Tooth Disease : Causes-Symptoms-Diagnosis-Treatment

 

What Is Charcot-Marie-Tooth Disease(CMT)?

Charcot-Marie-Tooth sickness (CMT) is one of the most commonplace inherited neurological issues, affecting about 1 in 2,500 people in the United States. The disease is known as for the three physicians who first identified it in 1886 - Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also referred to as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that have an effect on peripheral nerves. The peripheral nerves lie out of doors of the mind and spinal cord and supply the muscular tissues and sensory organs within the limbs. Disorders that have an effect on the peripheral nerves are called peripheral neuropathies.


What Is Charcot-Marie-Tooth Disease(CMT)?
 Charcot-Marie-Tooth Disease



Charcot-Marie-Tooth sickness encompasses a set of issues called hereditary sensory and motor neuropathies that harm the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscular tissues and to sensory cells that locate sensations consisting of contact, pain, warmness, and sound. Damage to the peripheral nerves that worsens over the years can result in alteration or lack of sensation and wasting (atrophy) of muscles in the toes, legs, and arms.


Charcot-Marie-Tooth ailment commonly turns into apparent in formative years or early maturity, however onset can also occur every time from early adolescence via overdue maturity. Symptoms of Charcot-Marie-Tooth ailment vary in severity and age of onset even amongst contributors of the same family. Some humans in no way recognise they've the ailment because their symptoms are so slight, but maximum have a moderate amount of bodily disability. A small percent of people revel in extreme weak points or other issues which, in very uncommon instances, can be lifestyle-threatening. In maximum affected individuals, however, Charcot-Marie-Tooth disorder no longer has an effect on lifestyle expectancy.


Typically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy within the toes. Affected people may also have foot abnormalities inclusive of excessive arches (pes cavus), flat toes (pes planus), or curled feet (hammer feet). They often have problems flexing the foot or strolling at the heel of the foot. These problems might also cause a better than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the ailment worsens, muscle tissue in the decreased legs generally weaken, however leg and foot problems hardly ever require the use of a wheelchair.


Affected people may also increase weakness inside the palms, causing problems with each day's sports which includes writing, fastening buttons, and turning door knobs. People with Charcot-Marie-Tooth ailment usually revel in a reduced sensitivity to the touch, warmness, and bloodlessness inside the feet and decrease legs, however now and again sense aching or burning sensations. In rare cases, affected individuals have loss of imaginative and prescient or sluggish listening to loss that sometimes results in deafness.


  1. Musculoskeletal system

  1. Human skeleton

  2. Joints

  3. Ligaments

  4. Muscular system

  5. Tendons





Medical terms

  • Charcot (shahr-KOH)-Marie-Tooth disorder is a set of inherited problems that motivate nerve harm. This damage is by and large in the legs and arms (peripheral nerves). Charcot-Marie-Tooth ailment is likewise referred to as hereditary motor and sensory neuropathy.
  • Charcot-Marie-Tooth ailment results in smaller, weaker muscular tissues. You may enjoy loss of sensation and muscle contractions, and trouble taking walks. Foot deformities inclusive of hammertoes and high arches are also common. Symptoms typically start within the ft and legs, but they'll finally affect your hands and arms.
  • Symptoms of Charcot-Marie-Tooth sickness normally appear in youth or early adulthood, but may additionally expand in midlife.
  • CMT is a group of inherited neurological disorders characterized by progressive weakness and atrophy of muscles in the lower legs and feet Weakness usually begins in early childhood or adolescence but may not be noticed until adulthood CMT is caused by the loss of myelin (the protective covering around nerves) with resulting damage to the peripheral nerves As a result the affected nerves degenerate and progressively lose their ability to conduct signals from the brain to the muscles.
  • (CMT) CMT is a degenerative genetic condition that causes loss of muscle function in the limbs This progressive disease can also cause weakness in the hands arms feet and legs CMT occurs when the nerve cells that control muscle movement begin to deteriorate When this happens the messages from the brain to muscles are slowed or blocked and the muscles don't function properly As a result one may feel unsteady on their feet and have difficulty walking or climbing stairs In severe cases an individual may be unable to walk or move independently.
  • There are numerous sorts of Charcot-Marie-Tooth disease, which are differentiated by way of their results on nerve cells and patterns of inheritance. Type 1 (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, defends them and helps to transmit nerve impulses. These abnormalities gradual the transmission of nerve impulses and might have an effect on the fitness of the nerve fiber. Type 2 (CMT2) is characterized through abnormalities in the fiber, or axon, that extends from a nerve mobile body to muscle mass or to sense organs. These abnormalities reduce the power of the nerve impulse. People with CMT2 may additionally expand amyotrophic lateral sclerosis (ALS), a situation characterized by means of progressive muscle weak point, a loss of muscle tissues, and an incapability to control motion. In forms of Charcot-Marie-Tooth disorder categorized as an intermediate kind, the nerve impulses are both slowed and reduced in electricity, possibly because of abnormalities in both myelin and axons. Type 4 (CMT4) is prominent from the opposite sorts with the aid of its pattern of inheritance; it can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disorder (CMTX) is due to mutations in genes at the X chromosome, one of the  sex chromosomes. Within the numerous styles of Charcot-Marie-Tooth sickness, subtypes (which include CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) imply one of a kind genetic reasons.
  • Sometimes different, ancient names are used to refer to particular varieties of  Charcot-Marie-Tooth disorder. For instance, Roussy-Levy syndrome is a shape of CMT11 with the extra function of rhythmic shaking (tremors).  Dejerine-Sottas syndrome is a term used to describe an intense, early youth shape of Charcot-Marie-Tooth disease; it is also every so often referred to as type three (CMT3). Depending on the specific gene that is altered, this extreme, early-onset shape of the ailment can also be classified as CMT1 or CMT4. CMTX5 is also referred to as Rosenberg-Chutorian syndrome.

Types of Charcot-Marie-Tooth disease(CMT)

Because CMT may be due to many one-of-a-kind genes, and the signs can vary broadly between differing types, classifying CMT is complex. Some studies have indicatedTrusted Source that a brand new category system may be wished for CMT, but it’s nonetheless being debated.

There are many different styles of CMT ailment, which may percentage some signs and symptoms but vary by means of pattern of inheritance, age of onset, and whether or not the axon or myelin sheath is concerned.

 types of CMT:

CMT1 Is because of abnormalities in the myelin sheath.  The autosomal dominant disorder has six predominant subtypes.

  • CMT1A results from a duplication of the gene on chromosome 17 that includes the instructions for producing the peripheral myelin protein-22 (PMP22).  The PMP22 protein is a crucial element of the myelin sheath.  Overexpression of this gene causes the strange form and characteristic of the myelin sheath.  CMT1A is usually slow.  Individuals experience weakness and atrophy of the muscle agencies of the lower legs starting in teenagers; later they experience hand weakness, sensory loss, hand foot and leg troubles.  A distinctive neuropathy tremendous from CMT1A referred to as hereditary neuropathy with predisposition to strain palsy (HNPP) is due to a deletion of one of the PMP22 genes.  In this example, abnormally low ranges of the PMP22 gene result in episodic, recurrent demyelinating neuropathy.

  • CMT1B is resulting from mutations within the gene that consists of the instructions for production of the myelin protein zero (MPZ, additionally known as P0), that's every other vital element of the myelin sheath.  Most of those mutations are point mutations, meaning a mistake takes place in only one letter of the DNA genetic code.  To date, scientists have identified more than one hundred twenty unique factor mutations inside the P0 gene.  CMT1B produces signs and symptoms similar to those observed in CMT1A.

  • Other much less commonplace causes of CMT1 result from mutations within the SIMPLE (also known as LITAF), EGR2, PMP22, and NEFL genes, respectively.

CMT2 Effects from abnormalities within the axon of the peripheral nerve mobile, as opposed to the myelin sheath, and is less common than CMT1.  This autosomal dominant disorder has more than a dozen subtypes (a number of that have their own editions), with each subtype being related to mutations in a specific gene.  Symptoms are similar to those visible in CMT1, however human beings with CMT2 often have much less incapacity and sensory loss than individuals with CMT1.  The onset of CMT2 is usually in formative years or adolescence.  Some sorts of CMT2 may additionally have vocal wire or phrenic nerve involvement, inflicting speech or respiratory issues.

CMT3, or Dejerine-Sottas disease, Is a mainly excessive demyelinating neuropathy that starts in infancy.  Infants have extreme muscle atrophy, weak spots, behind schedule motor abilities improvement, and sensory troubles.  Symptoms may develop to excessive disability, lack of sensation, and curvature of the spine.  This uncommon ailment may be due to mutations in multiple genes, consisting of PMP22, MPZ, and EGR2, and may be inherited either dominantly or recessively.

CMT4 Contains several one of a kind subtypes of demyelinating and axonal and motor neuropathies which are inherited autosomal recessively.   Each neuropathy subtype is as a result of a mutation in a one of a kind gene (numerous genes had been identified in CMT4).  The mutations might also have an effect on a particular ethnic population and bring distinct physiologic or scientific traits.  People with CMT4 usually develop symptoms of leg weakness in formative years and by way of adolescence they'll now not be able to walk.  CMT4 is rare in the United States.

CMTX1 (also referred to as CMT X, Type 1) is the second one, a maximum not unusual shape of CMT.  This X-linked disorder is due to mutations in a gene that offers instructions for making the protein connexin-32.  The connexin-32 protein is observed in myelinating Schwann cells—cells that wrap around nerve axons and make up the myelin sheath.  Males who inherit the mutated gene display moderate to severe symptoms of the sickness beginning in past due adolescence or formative years.  Females who inherit a mutated gene frequently expand milder signs and symptoms than adult males or do no longer show signs and symptoms.

Symptoms Charcot-Marie-Tooth disease(CMT)

CMT influences sensory and motor nerves (nerves that cause an impulse for a muscle to contract) inside the palms, fingers, legs, and toes.  The affected nerves slowly degenerate and lose the potential to communicate with their remote objectives.  Motor nerve degeneration results in muscle weak spots and reduction in muscle bulk (atrophy) in the fingers, legs, hands, or toes.

Typical early features include weak point or paralysis of the foot and lower leg muscular tissues, which can cause trouble lifting the foot (foot drop) and an excessive-stepped gait with frequent tripping or falling.  Individuals additionally might also observe stability issues.  Foot deformities, along with excessive arches and curled feet (hammertoes), are also commonplace in CMT.  The lower legs may additionally take on an "inverted champagne bottle" form due to the loss of muscle bulk.  As the disorder progresses, weakness and atrophy may additionally arise in the palms, causing difficulty with first-rate motor competencies.  Degeneration of sensory nerve axons can also result in a reduced capability to feel warmth, bloodlessness, and touch.  The senses of vibration and position (proprioception) are often decreased in people with CMT.  The disease also can cause curvature of the spine (scoliosis) and hip displacement.  Many people with CMT expand contractures—continual shortening of muscle mass or tendons around joints, which prevents the joints from moving freely.  Muscle cramping is common.  Nerve ache can vary from moderate to extreme, and some individuals might also want to depend on foot or leg braces or other orthopedic devices to maintain mobility. Some people with CMT enjoy tremor, and imaginative and prescient and listening can also be affected.In rare instances, respiratory problems may additionally arise if the nerves that manipulate the muscle mass of the diaphragm are affected.

Signs and symptoms of Charcot-Marie-Tooth sickness may additionally consist of:

  • Weakness in your legs, ankles and feet

  • Loss of muscle bulk in your legs and feet

  • High foot arches

  • Curled toes (hammertoes)

  • Decreased ability to run

  • Difficulty lifting your foot at the ankle (foot drop)

  • Awkward or higher than normal step (gait)

  • Frequent tripping or falling

  • Decreased sensation or a loss of feeling in your legs and feet

As Charcot-Marie-Tooth ailment progresses, symptoms might also unfold from the feet and legs to the hands and hands. The severity of signs and symptoms can vary greatly from person to character, even amongst family individuals.

Causes Charcot-Marie-Tooth disease(CMT)

CMT is as a result of an inherited fault in one of the many genes answerable for the development of the peripheral nerves. This faulty way the nerves grow to be broken over the years.

A baby with CMT might also have inherited the genetic fault responsible for the condition from 1 or both in their dad and mom.

There's no single faulty gene that causes CMT. There are many forms of CMT which might be because of special genetic faults and these may be inherited in several special methods.

The chances of passing CMT on your child rely upon the specific genetic faults you and your associate deliver.

Charcot-Marie-Tooth disorder is an inherited, genetic situation. It occurs while there are mutations in the genes that have an effect on the nerves on your toes, legs, palms and fingers.

Sometimes, these mutations damage the nerves. Other mutations harm the protecting coating that surrounds the nerve (myelin sheath). Both reason weaker messages to journey between your limbs and mind.

Risk factors Charcot-Marie-Tooth disease(CMT)

Charcot-Marie-Tooth ailment is hereditary, so that you're at better risk of developing the disorder if anyone in your immediate family has the sickness.

Other reasons for neuropathies, together with diabetes, may additionally cause signs and symptoms similar to Charcot-Marie-Tooth disease. These other situations can also motivate the signs and symptoms of Charcot-Marie-Tooth disorder to turn out to be worse. Medications consisting of the chemotherapy pills vincristine (Marqibo), paclitaxel (Abraxane) and others could make symptoms worse. Be positive to allow your doctor to recognise all of the medications you are taking.

Complications Charcot-Marie-Tooth Disease

Complications of Charcot-Marie-Tooth disorder range in severity from man or woman to individual. Foot abnormalities and difficulty strolling are usually the most extreme problems. Muscles may also get weaker, and you could injure regions of the frame that enjoy reduced sensation.

Sometimes the muscle mass on your toes may not get hold of your mind's signal to agreement, so that you're more likely to journey and fall. And your mind might not acquire pain messages out of your feet, so in case you've rubbed a blister in your toe, for instance, it could get inflamed without your understanding it.

You might also enjoy difficulty breathing, swallowing or speakme if the muscles that control these functions are tormented by Charcot-Marie-Tooth disorder.

Charcot-Marie-Tooth isn't a fatal ailment, and most people stay to a regular age and remain lively. In uncommon instances, it could have an effect on the muscle groups you need to breathe. Because this could be specially risky at night time, you can need a middle of the night breathing assistive tool.

More common complications include:

  • Injuries from falls

  • Worsening of the disease that certain prescription drugs can cause

  • Injuries or infections of the feet that pass not noted due to lack of ache and temperature sensation

Can CMT be reversed?

CMT cannot be reversed However the progression of the disease can be slowed down by early diagnosis and treatment exercise and physical therapy or maintaining a healthy weight and diet Additionally several drugs are being developed to slow the progression of CMT.

Is CMT life threatening?

CMT also known as Charcot-Marie-Tooth disease is a progressive neurological disorder that causes muscle weakness and loss of sensation in the hands and feet It can also affect the muscles of the face causing drooping eyelids and difficulty moving the eyes as well as the respiratory system resulting in breathing issues When CMT affects the heart it can cause an enlarged heart and heart failure.

Can CMT stop progressing?

CMT can stop progressing with treatment The goal of treatment is to slow down or stop the progression of symptoms and improve the ability to walk, move and perform daily activities Treatment options include: physical therapy medication, electrical stimulation, limb-lengthening surgery and other procedures to help manage CMT.

Charcot-marie-tooth disease inheritance

Because of the variability in this disease there is no known mode of inheritance The disorder is thought to be inherited as a single gene disorder with incomplete penetrance and variable expressivity The evidence for this theory comes from the observed cases of families having more than one member with Charcot-Marie-Tooth disease However each family case is different.

Diagnosis Charcot-Marie-Tooth disease(CMT)

To diagnose CMT, your doctor will start by asking you approximately your signs, your medical records, and any medical conditions that run in your family. They’ll conduct a physical exam to search for signs of CMT. They’ll also perform a neurological examination to observe your reflexes, coordination, and muscle electricity.

During the bodily examination, your doctor may also take a look at for:

  • Signs of muscle weakness in your arms, legs, hands and feet

  • Decreased muscle bulk in your lower legs, resulting in an inverted champagne bottle appearance

  • Reduced reflexes

  • Sensory loss in your feet and hands

  • Foot deformities, such as high arches or hammertoes

  • Other orthopedic problems, such as mild scoliosis or hip dysplasia

Your doctor may additionally advocate the subsequent tests, which can assist offer statistics approximately the extent of your nerve damage and what can be causing it.

  • Nerve conduction studies. These assessments measure the strength and velocity of electrical signals transmitted through your nerves. Electrodes at the pores and skin supply small electric shocks to stimulate the nerve. Delayed or susceptible responses may additionally imply a nerve disorder consisting of Charcot-Marie-Tooth disease.

  • Electromyography (EMG). A skinny needle electrode is inserted via your pores and skin into the muscle. Electrical hobby is measured as you loosen up and as you lightly tighten the muscle. Your health practitioner may be able to determine the distribution of the disease by way of testing distinct muscle tissues.

  • Nerve biopsy. A small piece of peripheral nerve is taken out of your calf through an incision on your pores and skin. Laboratory evaluation of the nerve distinguishes Charcot-Marie-Tooth ailment from different nerve problems.

  • Genetic testing. These tests, that may locate the most not unusual genetic defects recognised to cause Charcot-Marie-Tooth ailment, are performed with a blood sample. Genetic checking out may additionally supply humans with the disease extra records for circle of relatives planning. It can also rule out different neuropathies. Recent advances in genetic trying out have made it extra affordable and comprehensive. Your health practitioner may also refer you to a genetic counselor earlier than trying out so that you can pleasant apprehend the professionals and cons of testing.

Treatment Charcot-Marie-Tooth disease(CMT)

There is no remedy for CMT, but physical and occupational treatment options, braces and different orthopedic devices, and orthopedic surgery can help human beings cope with the disabling symptoms of the sickness.  In addition, ache-alleviation drugs may be prescribed for people who've intense nerve ache.

Maintaining mobility, flexibility, and muscle electricity is important.  Beginning a remedy software early can also put off or reduce nerve degeneration and muscle weak point before it progresses to the factor of disability.  Physical therapy consists of muscle strength training, muscle and ligament stretching, and mild aerobic exercise.  A specialized exercising program accredited by using the man or woman’s physician can assist build stamina, growth patience, and maintain usual health.

Many people with CMT require ankle braces and different orthopedic gadgets to keep regular mobility and save you harm.  Braces can help save you ankle sprains by means of presenting guide and balance at some point of sports including on foot or hiking stairs.  High-pinnacle shoes or boots also can supply the character support for susceptible ankles.  Thumb splints can assist with hand weakness and loss of first-class motor abilities.  Assistive devices must be used before disability units because the gadgets can also prevent muscle strain and decrease muscle weakening.

Some people with CMT may additionally decide to have orthopedic surgical treatment to treat excessive foot and joint deformities, enhance the ability to walk, and lessen ache.

Occupational therapy includes studying new methods to deal with the sports of everyday living.  For example, individuals with weak points in their fingers and fingers may additionally learn to use Velcro closures or clasps rather than buttons on their clothes, or new approaches of feeding themselves the use of assistive technology.

There's no treatment for Charcot-Marie-Tooth disorder. But the disorder commonly progresses slowly, and it does not have an effect on anticipated existence span.

There are a few remedies that will help you control Charcot-Marie-Tooth disease.

Medications

Charcot-Marie-Tooth sickness might also every so often motivate pain due to muscle cramps or nerve harm. If ache is an issue for you, prescription pain medicine may also assist control your pain.

Therapy

  • Physical therapy. Physical remedy can help support and stretch your muscle mass to save you muscle tightening and loss. A program typically includes low-impact physical activities and stretching strategies guided via an educated bodily therapist and authorized by your health practitioner. Started early and accompanied often, bodily remedy can help prevent disability.

  • Occupational therapy. Weakness within the arms and palms can cause problems with gripping and finger moves, which include fastening buttons or writing. Occupational remedy can assist via the use of assistive gadgets, such as special rubber grips on doorknobs, or garb with snaps in preference to buttons.

  • Orthopedic devices. Many human beings with Charcot-Marie-Tooth disease require the help of certain orthopedic gadgets to keep everyday mobility and to prevent harm. Leg and ankle braces or splints can offer stability even as walking and climbing stairs.
    Consider boots or excessive-top footwear for additional ankle help. Custom-made shoes or shoe inserts may enhance your gait. Consider thumb splints if you have hand weakness and difficulty with gripping and maintaining matters.

Surgery

If foot deformities are extreme, corrective foot surgery may also help alleviate pain and improve your capacity to stroll. Surgery can not enhance weak points or loss of sensation.

  1. Bone transplant

Potential future treatments

Researchers are investigating a number of potential treatment plans which could someday treat Charcot-Marie-Tooth disease. Potential treatment plans encompass medicinal drugs, gene therapy and in vitro procedures that could assist prevent passing the ailment to future generations.

Lifestyle and home remedies

Some habits may additionally prevent complications as a result of Charcot-Marie-Tooth disorder and help you control its consequences.

Started early and observed regularly, at-domestic activities can offer safety and alleviation:

  • Stretch regularly. Stretching can assist improve or hold the variety of motion of your joints and decrease the threat of damage. It's additionally helpful in enhancing your flexibility, balance and coordination. If you have got Charcot-Marie-Tooth ailment, everyday stretching can prevent or lessen joint deformities which can result from choppy pulling of muscle on your bones.

  • Exercise daily. Regular exercise keeps your bones and muscle mass robust. Low-effect sporting activities, along with biking and swimming, are much less worrying on fragile muscle groups and joints. By strengthening your muscle groups and bones, you could enhance your stability and coordination, lowering your threat of falls.

  • Improve your stability. Muscle weakness associated with Charcot-Marie-Tooth disorder may cause you to be unsteady on your feet, resulting in falls and extreme injury. Walking with a cane or a walker can boost your balance. Good lighting at night will let you avoid stumbling and falling.

Foot care is important

Because of foot deformities and loss of sensation, normal foot care is essential to help relieve signs and to save you headaches:

  • Inspect your feet. Check them daily to prevent calluses, ulcers, wounds and infections.

  • Take care of your nails. Cut your nails often. To keep away from ingrown toenails and infections, cut straight across and keep away from cutting into the nail bed edges. A podiatrist can trim toenails for you when you have issues with circulation, sensation and harm to the nerves to your toes. Your podiatrist can also be capable of endorsing a salon to securely trim your toenails.

  • Wear the right shoes. Choose well fitting, protective shoes. Consider sporting boots or high-top shoes for ankle help. If you have got foot deformities, together with a hammertoe, explore having footwear custom made.

Coping and support

Support companies, in conjunction with your health practitioner's recommendation, may be precious in managing Charcot-Marie-Tooth disease. Support groups bring together folks who are dealing with the same styles of demanding situations, and offer a place in which human beings can share commonplace problems.

Ask your health practitioner approximately aid organizations for your network. The internet and your nearby health branch, public library and cellphone book additionally can be accurate sources to discover a guide organization in your vicinity.

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Preparing for your appointment

You may first talk about your signs and symptoms together with your family doctor, but he or she will likely refer you to a neurologist for assessment.

Because there may be a great deal to speak about in a short time, try to arrive properly prepared. Here's some information to help you get geared up for your appointment and understand what to anticipate out of your medical doctor.

What you can do

  • Be aware of any pre-appointment restrictions. At the time you're making the appointment, be sure to invite if there is whatever you need to do in advance, which includes restricting your food plan.

  • Write down any symptoms you're experiencing, Which include any that can seem unrelated to the reason for that you scheduled the appointment.

  • Make a list of all medications, vitamins or supplements that you're taking.

  • Ask a family member or friend to come with you, If possible. Sometimes it is difficult to don't forget all of the facts provided to you at some stage in an appointment. Someone who accompanies you may keep in mind something that you overlooked or forgot.

  • Write down questions to ask your doctor.

  • Ask in your family if others are similarly affected before going to your appointment coming

Your time with your physician may be constrained, so try to prepare a listing of questions. For Charcot-Marie-Tooth sickness, some simple inquiries to ask your physician encompass:

  • What's the most likely cause of my symptoms?

  • What kinds of tests do I need? Do these tests require any special preparation?

  • Will this condition go away, or will I always have it?

  • What treatments are available, and which do you recommend for me?

  • What are the possible side effects for treatment?

  • I have other health conditions. How can I best manage these conditions together?

  • Do I need to follow any activity restrictions?

  • Are there any brochures or different revealed material that I can take home with me? What websites do you endorse visiting?

What to expect from your doctor

Your health practitioner is in all likelihood to invite you some questions. Being geared up to reply to them may additionally reserve time to head over any factors you want to spend extra time on. Your medical doctor might also ask:

  • When did you begin experiencing symptoms?

  • How severe are your symptoms?

  • Do you have symptoms all the time, or do they come and go?

  • Does anything seem to make your symptoms better?

  • Does anything make your symptoms worse?

  • Does anyone in your family have similar symptoms?

  • Have you or others in your family had genetic testing to confirm the diagnosis?

General summary

Charcot-marie-tooth disease type 1

  1. a CMT1A the most common form of Charcot-Marie-Tooth disease is an inherited disorder characterized by loss of muscle tissue and touch sensation CMT1A is the result of a mutation in 1 of 10 different genes each of which regulates the structure and function of nerve cells.

Charcot-marie-tooth disease type 2

  1. A Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the nerves Most of the symptoms appear in the feet and legs although they can also occur in other areas such as the hands arms shoulders and neck The severity of symptoms varies among people with CMT and can range from mild to debilitating.

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Charcot-Marie-Tooth Disease : Causes-Symptoms-Diagnosis-Treatment

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