腓骨肌萎缩症(Charcot-Marie-Tooth, CMT)

腓骨肌萎缩症(Charcot-Marie-Tooth, CMT)

译者：陶可（北京大学人民医院骨关节科）

腓骨肌萎缩症(CMT)是一种控制肌肉的周围神经疾病，可导致手指、上肢手臂、下肢和足部的功能和感觉进行性丧失。

腓骨肌萎缩症(CMT)是遗传性周围神经病的一种形式。

CMT这个名字从何而来？

CMT是腓骨肌萎缩症(Charcot-Marie-Tooth)的缩写，以首先描述该病的三位医生命名：Drs. Jean-Martin Charcot和Pierre Marie（均来自法国）和Howard Henry Tooth（英国）。

目前全世界有多少人患有腓骨肌萎缩症(CMT)？

腓骨肌萎缩症(CMT)影响美国133,000人，全球约300万人。

谁可能患有腓骨肌萎缩症(CMT)？

腓骨肌萎缩症(CMT)可以影响任何人，无论种族、性别、民族等。

腓骨肌萎缩症(CMT)是否遗传（倾向）？

腓骨肌萎缩症(CMT)是最常见的遗传性周围神经病。腓骨肌萎缩症(CMT)可以代代相传。它也可以作为新的或自发的（从头）突变发生。

有多少基因突变会导致腓骨肌萎缩症(CMT)？

科学家们已经鉴定出超过100种不同的基因突变会导致腓骨肌萎缩症(CMT)。大多数人(90%)患有四种类型的腓骨肌萎缩症(CMT)之一：CMT 1A (PMP 22)； CMT 1B（MPZ）；CMT 2A (MFN2)和CMT 1X (GJB1)。

腓骨肌萎缩症(CMT)有多少种类型？

腓骨肌萎缩症(CMT)分为三种主要类型：脱髓鞘型（1型和4型）、轴突型（2型）和中间型。

腓骨肌萎缩症(CMT)是会进展的疾病吗？

腓骨肌萎缩症(CMT)缓慢进展，导致小腿/脚和手/手臂失去正常功能和/或感觉。

腓骨肌萎缩症(CMT)周围神经病变有哪些症状？

腓骨肌萎缩症(CMT)症状

腓骨肌萎缩症(CMT)周围神经病变的最初症状可能包括用脚趾走路、频繁绊倒、踝关节扭伤、笨拙以及脚和/或手的“灼烧感”或针刺感。患有腓骨肌萎缩症(CMT)的儿童可能会更频繁地跌倒，并且延迟达到某些标准的儿童身体发育阶段。

高足弓和锤状趾（卷曲脚趾）等足部结构畸形很常见，但有些人有扁平足和直脚趾。在疾病过程的后期，手指和手部可能会出现挛缩。

由于脚部和腿部肌肉萎缩，可能会出现足下垂（脚踝处无法抬起脚）、平衡不良和行走问题，有些人可能患有髋关节发育不良。

随着手部萎缩的发生和进展，涉及手动灵巧性的任务（例如书写、抓握或捡起小物体或操纵拉链和纽扣）可能会出现困难。

在腓骨肌萎缩症(CMT)中，感觉异常、轻触感觉能力丧失、整体触觉以及感知温度变化的能力可能会减弱，甚至丧失。丧失感知身体在空间中的位置（本体感觉）的能力也很常见，许多人会经历肌肉骨骼或神经性疼痛。

对冷、冷和/或热温度的耐受性较差是典型的。许多人长期手脚冰凉。其他症状可能包括弯曲的手指、挛缩、震颤、膝关节和/或髋关节问题、肌肉痉挛、肌肉痉挛、大鱼际肌肉萎缩（拇指和食指之间的肌肉质量损失）、手部整体力量丧失、反射缺失或减弱，慢性疲劳、阻塞性睡眠呼吸暂停、血液循环不良、脊柱侧凸、脊柱后凸、髋关节发育不良。

罕见症状包括呼吸肌无力引起的呼吸困难、吞咽或说话困难、神经源性膀胱、听力丧失、视神经病变和声带麻痹。

腓骨肌萎缩症(CMT)的心理影响不容忽视，它会导致烦躁、抑郁、焦虑、绝望和内疚感。

如何诊断腓骨肌萎缩症(CMT)？

腓骨肌萎缩症(CMT)诊断涉及肌肉功能和萎缩的临床评估、感觉反应测试以及肌电图和神经传导研究。许多类型的腓骨肌萎缩症(CMT)也可以通过基因检测来诊断。

腓骨肌萎缩症(CMT)与肌肉萎缩症有何不同？

腓骨肌萎缩症(CMT)是一种控制肌肉的周围神经疾病。肌营养不良症是肌肉本身的疾病。

腓骨肌萎缩症(CMT)有治疗方法吗？

尽管腓骨肌萎缩症(CMT)没有药物治疗，但物理治疗和适度活动（但不要过度劳累）可以帮助保持肌肉力量、耐力和灵活性。 AFO（踝足矫形器）和定制鞋等机械支撑可以改善步态和平衡。当有医学指征时，整形外科手术可以矫正畸形并帮助保持活动能力和功能。职业治疗和适应性设备可以帮助人们进行日常生活活动。

腓骨肌萎缩症(CMT)有治愈方法吗？

腓骨肌萎缩症(CMT)目前无法治愈，但通常不会导致肥胖等，尽管在一小部分情况下它会严重致残。

腓骨肌萎缩症(CMT)患者应避免服用哪些药物？

有些药物对所有人都有神经毒性。一些神经毒性药物对腓骨肌萎缩症患者构成更大的风险。长春新碱已被证明是危险的，所有腓骨肌萎缩症(CMT)患者都应避免使用。服用任何药物或更换药物之前，请确保您的医生充分了解您的健康状况，并讨论他们可能对腓骨肌萎缩症(CMT)产生的任何可能的副作用。

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth (CMT) is a disease of the peripheral nerves that control muscles that can cause progressive loss of function and sensation in the hands, arms, legs, and feet. CMT is a form of inherited peripheral neuropathy.

Where did the name CMT come from?

CMT is the acronym for Charcot-Marie-Tooth disease, named after the three physicians who first described it: Drs. Jean-Martin Charcot and Pierre Marie (both from France) and Howard Henry Tooth (of the United Kingdom).

How many people have CMT?

CMT affects 133,000 people in the United States and roughly 3 million worldwide.

Who gets CMT?

CMT can affect anyone regardless of race, gender, ethnicity, etc.

Is CMT genetic?

CMT is the most commonly inherited peripheral neuropathy. CMT can be passed on from one generation to the next. It can also occur as a new or spontaneous (de novo) mutation. Learn about CMT inheritance patterns.

How many gene mutations cause CMT?

Scientists have identified over 100 different gene mutations causing CMT. Most people (90%) have one of four types of CMT: CMT 1A (PMP 22); CMT 1B (MPZ); CMT 2A (MFN2) and CMT 1X (GJB1).

How many types of CMT are there?

There are three main types of CMT – demyelinating (types 1 ＆ 4), axonal (type 2), and intermediate.

Learn more about CMT Types and Subtypes

Is CMT progressive?

CMT is slowly progressive, causing loss of normal function and/or sensation in the lower legs/feet and hands/arms.

What are the symptoms of CMT peripheral neuropathy?

CMT Symptoms

First signs of CMT peripheral neuropathy may include toe-walking, frequent tripping, ankle sprains, clumsiness, and “burning” or pins-and-needles sensations in the feet and/or hands. Children with CMT may fall more frequently and be delayed in reaching some of the standard childhood physical milestones.

Structural foot deformities such as high arches and hammertoes (curled toes) are common, but some people have flat feet and straight toes. Later in the disease process, contractures may develop in the fingers and hands.

Foot drop (inability to lift foot at ankle), poor balance, and problems walking may develop as muscles atrophy in the feet and legs, and some people may have hip dysplasia.

Difficulty with tasks involving manual dexterity, such as writing, grasping or picking up small object or manipulating zippers and buttons can develop as atrophy in the hands sets in and progresses.

Abnormal sensation, loss of ability to feel light touch, the overall sense of touch, and the ability to perceive temperature change can become diminished, or even lost, in CMT. The loss of the ability to sense where one’s body is in space (proprioception) is also common, and many people experience musculoskeletal or neuropathic pain.

Poor tolerance for cool, cold and/or hot temperatures is typical. Many people have chronically cold hands and feet. Additional symptoms may include flexed fingers, contractures, tremor, knee and/or hip problems, muscle cramps, muscle spasms, thenar muscle atrophy (loss of muscle mass between the thumb and forefinger), loss of overall hand strength, absent or reduced reflexes, chronic fatigue, obstructive sleep apnea, poor circulation, scoliosis, kyphosis, hip dysplasia.

Rare symptoms include breathing difficulties caused by respiratory muscle weakness, swallowing or speaking difficulties, neurogenic bladder, hearing loss, optic neuropathy and vocal cord paralysis.

The psychological impact of having CMT can’t be ignored, leading to irritability, depression, anxiety, feelings of hopelessness and guilt.

If you are having suicidal thoughts, immediately call your local suicide hotline or the National Suicide Prevention Lifeline: 1-800-273-TALK (1-800-273-8255), or seek help right away at a local emergency room.

How is CMT diagnosed?

A CMT diagnosis involves clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing.

Learn more about the CMT Diagnosis Process

How is CMT different from Muscular Dystrophy?

CMT is a disease of the peripheral nerves that control muscles. Muscular dystrophy is a disease of the muscles themselves.

Is there a Treatment for CMT?

Although there is no drug treatment for CMT, physical therapy and moderate activity (but not overexertion) can help maintain muscle strength, endurance and flexibility. Mechanical supports like AFOs (ankle-foot orthoses) and custom-made shoes can improve gait and balance. When medically indicated, orthopedic surgery can correct deformity and help maintain mobility and function. Occupational therapy and adaptive devices can help people perform activities of daily living.

Is there a cure for CMT?

CMT is currently incurable, but not usually fatal, though it is severely disabling in a small proportion of cases.

Any medications people with CMT should avoid?

Some medications are neurotoxic to all humans. Some neurotoxic medications pose a greater risk to people living with Charcot-Marie-Tooth disease. Vincristine has been proven hazardous and should be avoided by all CMT patients. Visit this page for more information about potentially neurotoxic medications. Before taking any medication or changing medications, be sure your physician is fully aware of your medical condition and discuss any possible side effects they may have on CMT. Have a drug/medication question? Email us at info@cmtausa.org.

文献出处：https://www.cmtausa.org/understanding-cmt/what-is-cmt/