什么是charcot-marie-tooth病？
Charcot-Marie-Tooth disease (CMT disease) is an inherited peripheral nerve disorder. With CMT, problems with the peripheral nerves cause symptoms such as muscle weakness, wasting, and loss of sensation in your arms and legs. CMT is progressive, meaning the symptoms worsen over time.
There’s currently no cure, but treatments are available to help you manage your symptoms.
Your peripheral nerves connect your brain and spinal cord, or central nervous system, to the rest of your body. The peripheral nerves carry messages from your brain and spinal cord to your muscles and other areas, and send information from these areas back to your brain. Problems with these nerves, like those in CMT, are known as周围神经病.
CMT以1886年发现的医生的名字命名：Jean-Martin Charcot，Pierre Marie和Henry Tooth。这种情况有时称为遗传运动和感觉神经病（HMSN）。
根据
Symptoms of CMT often occur in adolescence, but they can appear as late as mid-adulthood.
早期迹象包括：
- clumsiness, stumbling, or tripping
- difficulty walking or running
- 下降
As symptoms progress, they can include:
- 弱点你的腿或手臂的肌肉
- 减少或缺少反射（areflexia)
- high stepping when walking, orfoot drop
- 弱点in your hands, which can cause problems with handwriting or fastening clothes
- muscle atrophy
- stiff joints (联合签署)
- muscle pain
- cramping
- 平衡问题
- loss of sensation, such as decreased ability to feel pain, heat, or cold
- fatigue
- nerve pain
- hearing loss
Physical signs of CMT can include:
- 脚脚趾等脚问题high arches
- 下腿的肌肉损失，导致小腿的明显弯曲形状
- scoliosis
症状通常发生在身体的两侧。
As CMT progresses, you may experience difficulty with a range of voluntary movements. This can affect your fine motor skills, your mobility, and in some cases, your speaking, swallowing, or breathing.
许多CMT症状因人而异，但CMT的每个人最终都会
Treatments, therapies, and supportive devices can help you to manage most symptoms.
CMT is a congenital disease. This means it’s present at birth, even though the symptoms of CMT often don’t appear until you’re in your teenage years or older.
The condition is caused by problems with one or more of your genes. In most cases, you inherit the problem genes, known as mutated genes, from one or both of your parents. And if you later have children, you can pass these CMT-causing genes to your own children.
In some rare cases, people are born with the genes that cause CMT spontaneously, without inheriting them from their parents. These people will develop CMT, and they can also pass down the CMT-causing genes to their children.
引起CMT的基因会导致周围神经不同部分的问题。最常见的是，CMT会影响覆盖神经的保护性鞘，称为髓鞘。在其他情况下，这种情况会影响组成神经细胞的部分之一，axon. Some types of CMT affect both the axon and the myelin sheath. All of these changes make it harder for your peripheral nerves to carry signals between your central nervous system and the rest of your body.
Because there are many types of CMT, each with a different genetic cause, talking with a genetic counselor may be helpful if you or someone in your family is diagnosed with CMT. A genetic counselor can help you to understand who in your family could be at risk of CMT.
Because CMT can be caused by many different genes, and the symptoms can vary widely between different types, classifying CMT is complex. Some research has
Here are the basic facts about the five main types of CMT:
- CMT1is caused by problems with your nerves’ protective myelin sheath.
- With CMT1, symptoms typically start before age 20. Life expectancy is not usually affected.
- A CMT1 subtype known as CMT1A is the
most common type of CMT. It’s caused by problems with a protein called PMP22. It typically has a slow progression, and usually affects the lower legs first.
- 其他基因引起的CMT1的其他六个亚型。
- CMT2is caused by problems with the axons in your peripheral nerve cells. People with CMT2 may have less sensory loss than those with CMT1.
- Age of onset varies for CMT2, but it’s often diagnosed byage 25.
- There are more than a dozen subtypes, each caused by different genes. Some subtypes can result in problems with breathing or speaking.
- CMT3, also called Dejerine-Sottas disease, causes severe muscle and sensory symptoms in infants. This type of CMT is rare, and it can have several different genetic causes.
- 通常在年轻婴儿.
- CMT4is inherited recessively, which means that you must inherit a gene from both of your parents to develop it.
- There are several different subtypes caused by different genes. This type is not commonly diagnosed in the United States.
- CMTX1is caused by a problem with a gene on the X chromosome. This affects the cells that produce your nerve cells’ myelin sheath. People with XY chromosomes (male sex) usually have more severe symptoms than people with XX chromosomes (female sex).
还有其他罕见类型的CMT具有不同的原因和症状模式。
To diagnose CMT, your doctor will begin by asking you about your symptoms, your medical history, and any medical conditions that run in your family. They’ll conduct a physical exam to look for signs of CMT. They’ll also conduct a neurological exam to examine your reflexes, coordination, and muscle strength.
您的医生可能会要求其他测试以帮助诊断潜在的神经损伤。这些测试可能包括：
- Nerve conduction study.Also known as anNCV测试, this procedure measures the speed of electrical signals in your peripheral nerves. To do this, a神经科医生will place two small discs called electrodes on your skin, one at each end of a nerve. Then, they’ll measure how quickly electricity moves between the electrodes.
- Electromyography test (EMG).This test通常是同时进行中译。小needles are used to place electrodes into one of your muscles. Electrical activity is then measured along your muscle. Your doctor will ask you to contract and then relax your muscle, so that electrical activity can be measured in both positions.
- Nerve biopsy.此过程涉及从小腿中去除一小部分神经样本。然后将您的神经样本带到实验室进行测试。医生或实验室技术员可能可以通过在显微镜下看着神经来看到CMT的迹象。
- 基因检测. This involves a blood test. Your blood sample will be tested in a laboratory to look for changes (mutations) to the genes that can cause CMT.
There is currently no cure for CMT. It usually progresses slowly, but no treatment has been proven to stop the progression. Treatment is focused on making symptoms more manageable, to improve quality of life.
Physical therapy
物理疗法是CMT患者的典型治疗方法。物理治疗师或被称为生理医生的专家可以为您制定物理治疗计划。
物理治疗他能lp reduce pain and fatigue. It may also help you to maintain your:
- 运动范围和灵活性
- muscle strength
- balance
- fine motor skills
您的物理治疗师或医生可能建议进行伸展运动，力量训练和有氧运动。如果您有CMT，请在添加新练习或进行体育锻炼水平的重大改变之前与您的医生联系很重要。
Assistive devices
Many different assistive devices may be useful for people with CMT:
- 夹板或牙套可以帮助您以更舒适和稳定的方式执行日常任务。
- Walkers or wheelchairs can help you improve your mobility.
- If you have hearing loss, your doctor may recommendhearing aids.
- If your feet have physical changes due to CMT,矫形鞋may help.
Anoccupational therapistcan help you learn to use assistive devices, and share other strategies to assist with daily living.
Medication
如果需要，您的医生可以开药，以帮助疼痛和抽筋等症状。
Surgery
在某些情况下，患有CMT的人可能会接受骨科手术. A doctor can use surgery to correct problems with your feet or joints.
CMT通常不是威胁生命的状况。它会随着时间的流逝而进展，但通常会缓慢进展。医生可以诊断您拥有哪种类型的CMT，并帮助您了解期望什么。
The severity of CMT symptoms varies from one person to another. Many symptoms can be managed well with physical therapy, medication, and assistive devices.
To lower your risk of injury and loss of function, it’s important to take good care of your muscles and joints. This can include following your physical therapy plan, and using splints, walkers, or other devices as recommended by your healthcare team.
Is Charcot-Marie-Tooth an autoimmune disease?
不，CMT不是自身免疫性疾病。患有CMT的人具有引起周围神经退化的问题基因（突变）。
Is Charcot-Marie-Tooth a form of MS?
不，CMT不是MS的形式。多发性硬化症是影响中枢神经系统的自身免疫性状况，并且没有遗传。CMT是一种影响周围神经系统的遗传疾病。
Is Charcot-Marie-Tooth the same as muscular dystrophy?
No. Although the two conditions share symptoms such as muscle weakness, CMT affects the peripheral nerves, whilemuscular dystrophyaffects the muscles directly.