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什么是肌肉萎缩症?

Muscular dystrophy is a type of disease that causes the muscles in your body to lose strength 和 mass. As your muscles become weaker over time, it may be hard for you to do normal activities.

这取决于你的肌肉萎缩症的类型, 你可能走路有困难, 呼吸, 或吞咽. 许多类型的肌肉萎缩症在儿童时期就开始出现症状, 但是肌肉萎缩症可以在任何年龄发生.

治疗

无药可治, but medication 和 therapy can help manage the worst symptoms 和 can help make daily activities easier.

大发娱乐治疗肌肉萎缩症


Duchenne 肌肉萎缩症 (DMD) is a genetic disorder that prevents your muscles from working correctly. 随着时间的推移,它会使正常的日常活动变得困难. It is the most well-known type of muscular dystrophy, 和 can also cause heart problems 和 obesity.

Becker 肌肉萎缩症 (BMD) is similar to Duchenne’s 肌肉萎缩症 but is usually less severe.

埃默里-德雷弗斯肌营养不良症 (EDMD)通常首先影响上臂和小腿的肌肉. 这是一种不太常见的肌肉萎缩症.

Facioscapulohumeral萎缩症 FSHD会影响面部、肩部、上臂和小腿的肌肉. 它还会影响你眼睛、耳朵和心脏的肌肉. 病人 usually start experiencing muscle weakness by the time they turn 20 years old.

四肢带状肌肉萎缩症 (LGMD)可以表现出从童年早期到成年晚期的迹象. It weakens the muscles in your shoulders 和 hips but can also affect your heart 和 diaphragm.

眼咽肌萎缩症 (OPMD) is different from other types of muscular dystrophy disorders because it usually doesn’t affect people until they are over 40 years old. 它会削弱面部肌肉,尤其是眼睛周围的肌肉. 这是一种非常罕见的疾病.

肌强直性肌营养不良

1型MMD (MMD1) is the most common type of muscular dystrophy that doesn’t start showing signs until the adult years. 它通常会影响你的面部、颈部、手臂和手部的肌肉. 它会导致口齿不清,并暂时导致你的下巴紧闭.

2型MMD (MMD2)与1型MMD相似,并且具有大多数相同的症状. 然而,2型通常不那么严重.

遗传性疾病


Hereditary neuropathies are a type of genetic disorder that affect your peripheral nervous system, 不控制大脑和脊髓的神经系统. Hereditary neuropathies usually affect the muscles in your arms, 腿, 手, 和 feet.

遗传性神经病的类型

Charcot Marie Tooth Disease is a genetic disorder that affects the nerves that make your feet, 腿, 手, 手臂也能正常工作. 这种疾病会削弱你的运动神经和感觉神经, 哪些向你的大脑传递信号(或指令).

脊髓性肌萎缩症(SMA)会削弱你的肌肉. 它会影响你脊髓中的运动神经元. Motor neurons are nerve cells that communicate messages to your brain 和 allow your muscles to work normally.

Friedreich’s Ataxia first affects the muscles in your 腿 和 then spreads upward towards your arm 和 chest muscles, 使它难以行走. 它还会导致听力和视力丧失. 这是非常罕见的,通常在儿童或青少年时期开始发展.

脊髓-球性肌肉萎缩 削弱你的面部和喉咙的肌肉(球肌),手臂和腿. The disorder damages motor neurons, the nerve cells in your spinal cord 和 brain. 它通常在成年期开始出现症状.

先天性肌肉萎缩症 & 肌肉疾病


如果你患有先天性肌肉萎缩症,那么你从出生起就患有这种疾病. 这是一种遗传性的肌肉萎缩症, 这意味着父母可以通过基因将疾病传给孩子.

肌病会导致骨骼肌收缩和运动出现问题. Skeletal muscles let you control voluntary movements like walking, sitting, 和 chewing.

先天性肌肉萎缩症的类型 & 肌肉疾病

先天性肌营养不良 导致严重的肌肉无力和肌肉力量的丧失. Most people with 先天性肌营养不良 are born with the disorder because their LAMA 2 gene has a mutation, 或改变, 这和其他人不一样. Many people with the disorder will need special devices to help their muscles move correctly.

与胶原蛋白相关的肌肉营养不良症 are types of disorders caused by mutations (or differences) in collagen genes in the body. 这些基因包括COL6A1、COL6A2和COL6A3. 伯利恒和乌尔里希是这种疾病的两种类型.

Laminopathy is a broad category of disorder caused by mutations, or abnormal changes, in the LMNA gene. 

Nemaline肌肉疾病 引起肌肉无力,最常见于面部、颈部和四肢的肌肉. These types of disorders are caused by mutations (changes) in the following genes: ACTA1, KBTBD13, CFL2, KLHL40, 内, TNNT1, TPM2, 和TPM3. 

Centronuclear肌病 is a disorder that causes muscle weakness 和 can start showing symptoms from birth to the early adults years. 有这种情况的人也可能有眼睑下垂, 畸形脚, 或者脊椎不正常地左右弯曲. BIN1、DNM2和MTM1基因的突变(或改变)会导致这种疾病. 

Channelopathies


A channelopathy is a type of disease that makes it hard for you to control how your muscles move. Channelopathies happen when small molecules inside your cell - called ions - don't work the way they should.

渠道病的类型

肌强直Congenita 削弱骨骼肌, 你用来移动手臂的肌肉, 腿, 以及身体的其他部位. Myotonia can affect any muscles in your body, but it most often affects the leg muscles. 两种主要类型是Thomsen病和Becker病. 

Paramyotonia Congenita,也叫 Eulenberg疾病这种疾病通常始于婴儿期或儿童期. 它会导致肌肉僵硬,阻止肌肉放松. 肌肉僵硬通常会随着重复的动作而恶化. 

周期性麻痹症 引起间歇性或周期性的肌肉无力. 它还会导致心律的危险变化,称为心律失常. The two most common types of period paralysis are hyperkalemic paralysis 和 Andersen-Tawil syndrome. 

炎性肌病


炎症性肌病会导致肌肉发炎和无力. 这些类型的疾病也会引起肌肉疼痛.

炎性肌病的类型

多肌炎 削弱你的臀部、大腿、上臂和颈部肌肉. 多肌炎 can make it hard to get up from a chair, climb stairs, or lift things over your head. 这种疾病还会使患者难以吞咽或呼吸. 

皮肌炎 导致你的臀部、大腿和颈部肌肉无力. 它类似于多发性肌炎, 但会在你的膝盖上引起红色或紫色的皮疹, 肘部, 指节, 或眼睑. 

包涵体肌炎 慢慢地,逐渐地发炎和削弱你身体的肌肉. 这种疾病可能只会影响身体一侧的肌肉. 它也会让人难以下咽. 症状通常在50岁以后才开始显现. 

代谢性肌肉疾病


Metabolic muscle diseases interrupt your body's normal metabolic process of taking energy from your food. These types of diseases change the chemical reactions your metabolism uses to break down sugars, 脂肪, 和碳水化合物.

代谢性肌肉疾病的类型

酸性麦芽糖酶缺乏症(庞贝病) interferes with your body’s ability to process carbohydrates, food your body uses for energy. 这种罕见的疾病会影响你新陈代谢中的肌肉. 

肉毒碱缺乏症 makes it difficult for your body to break down or metabolize 脂肪 that your body uses for energy, 尤其是当你禁食的时候. 

肉碱棕榈转移酶缺乏症 makes it hard for your body to use (or metabolize) certain 脂肪, 尤其是当你禁食的时候. 

脱分枝酶缺乏症(Cori或Forbes病) interferes with your body’s ability to process carbohydrates, food that your body uses for energy. 它会导致肝损伤,包括肝肿胀和低血糖水平. 有时会引起癫痫发作. 

乳酸脱氢酶缺乏 harms your body’s ability to break down (or metabolize) sugar that your cells use for energy. 当你锻炼时,这种情况会导致抽筋、疲劳和肌肉疼痛. 

肌腺苷酸脱氨酶缺乏 interferes with how your cells process a primary energy molecule called adenosine triphosphate (ATP). 这种疾病会在运动时引起痉挛和肌肉疼痛. 

磷酸果糖激酶缺乏症(塔瑞病) 破坏你的身体处理碳水化合物的方式,碳水化合物是你身体用来作为能量的食物. 像其他代谢疾病一样,它会在运动时引起疼痛和痉挛. It can also cause another condition called myoglobinuria, which causes your urine to turn brown. 

磷酸甘油酸激酶缺乏 使你的身体难以分解葡萄糖. 葡萄糖是一种单糖,你的细胞用它来大发娱乐提供能量. 这种疾病也会导致慢性溶血性贫血, 哪些会导致黄疸, 呼吸急促(气促), 和疲劳. 

磷酸甘油酸变异酶缺乏症 影响你身体的骨骼肌,你身体用来运动的肌肉. It usually starts during the child or teenage years 和 causes aches or cramps after exercise. It can also cause myoglobinuria, a condition that causes muscles to break down abnormally. 

磷酸化酶缺乏症(麦卡德尔病) 损害你的身体代谢或分解糖原的方式, 是你身体能量的重要来源. 它会导致疲劳、肌肉疼痛和虚弱. 

线粒体肌病


Mitochondrial myopathies are a type of neuromuscular disease that occur when the mitronchria inside your cells become damaged. 线粒体为细胞大发娱乐提供能量. 当你的线粒体不能正常工作时, 你的肌肉会变得虚弱, 尤其是在某些活动中,比如锻炼.

线粒体肌病的类型

卡恩-塞尔综合征(KSS) 通常在20岁之前出现症状. 它通过削弱眼球运动和引起眼睑下垂来影响眼睛. 它还会导致肾脏问题, 你四肢的软弱, 还有协调动作和保持平衡的问题. 

利氏综合征(又称亚急性坏死性脑肌病) 和 母系遗传性利氏综合征(MILS) 最常影响婴儿和幼儿. These two diseases can cause muscle weakness, kidney problems, 和 developmental disabilities. 

线粒体DNA缺失综合征(MDS) 是一种遗传性疾病,会随着时间的推移慢慢削弱你身体的肌肉吗. 大多数情况下,这种疾病的症状会在童年早期出现. 

Mitochondrial Encephalomyopathy, Lactic Acidosis 和 Stroke-Like Episodes (MELAS) 是一种影响大脑、肌肉和神经系统的疾病吗. 大多数MELAS患者在40岁之前会出现类似中风的症状.

线粒体神经胃肠道脑肌病(MNGIE) is a condition that affects many parts of your body, especially the digestive system. It can cause vomiting, nausea, difficulty swallowing, 和 feelings of fullness while you eat. 

肌阵挛性癫痫伴红纤维不规则(MERRF) 是一种主要影响肌肉和神经系统的疾病吗. 患有这种疾病的人通常有与其他人非常不同的症状, 即使他们在同一个家庭.

神经病变、共济失调和视网膜色素变性(NARP) 引起肌肉无力,手臂或腿部疼痛或刺痛. 患有NARP的人在行走和保持平衡方面也有问题. 

皮尔森综合症 损害你身体正常分解食物的能力. It can cause severe diarrhea 和 can lead to symptoms that seem like Leigh Syndrome. 

进行性外眼肌麻痹(PEO) 导致眼睛和眼睑的肌肉不正常工作. This can cause eye muscle weakness, drooping eyelids, 和 an inability to move your eye (paralysis).