杜氏肌营养不良症（DMD）是一种由于基因突变导致的遗传性疾病，特征是肌肉逐渐退化和弱化。这种突变发生在编码肌球蛋白的基因上，肌球蛋白有助于保持肌肉细胞的完整性。该突变阻止了功能性肌球蛋白的产生，导致肌肉受损和杜氏肌营养不良症的相关症状。该病通常影响男孩，并在儿童早期开始。

杜氏肌营养不良症是肌营养不良症中最严重的形式，没有亚型。然而，它是一组称为肌球蛋白病的疾病的一部分，这些疾病在严重程度和发病年龄上有所不同。其中包括贝克氏肌营养不良症，与DMD类似但较轻，以及其他可能表现为较轻症状或较晚发病的形式。

为了鉴别诊断杜氏肌营养不良症（DMD），需要一系列全面的病人信息和测试结果。以下是详细列表：
1. 症状：DMD的常见症状包括肌肉无力，通常始于下肢和骨盆区域，但也影响到手臂、腿部和躯干。症状通常在儿童早期，约2到3岁时出现。患者可能还会表现出站立困难、行走困难和保持平衡困难。
2. 病史：详细记录任何神经肌肉疾病的家族病史，尤其是男性亲属的病史非常重要。应注意与运动技能相关的早期里程碑活动，如走路、跑步和爬行，以及频繁摔倒或在进行体育活动时的困难历史。
3. 体格检查：如Gowers'征（站立时无法不用手“走”上腿的困难）、小腿肌肉增大、肌肉萎缩和挛缩等体征指示DMD。
4. 诊断测试：
• 肌酸激酶（CK）水平：由于肌肉分解，CK水平在血液中升高是DMD患儿的常见症状。
• 遗传测试：此测试确认负责产生肌肉功能所必需的蛋白质—肌营养不良蛋白（dystrophin）的DMD基因中存在突变。
• 肌肉活检：如果遗传测试结果不确定，可能进行肌肉活检以测量肌营养不良蛋白水平。
• 肌电图（EMG）：尽管对DMD来说不是特异性的，但EMG可以评估肌肉的电活动并排除其他神经肌肉疾病。
• 心肺测试：由于DMD影响心脏和呼吸肌肉

杜氏肌肉萎缩症（DMD）是一种以肌肉逐渐退化和虚弱为特征的遗传性疾病。以下是杜氏肌肉萎缩症患者在病史收集、体格检查和诊断测试中的典型结果：

1. 病史收集：
• 病史中通常会提到早期症状，包括跑步、跳跃困难和频繁摔倒。
• 可能会报告家族中有DMD或其他肌肉萎缩病史。
• 运动里程碑延迟，如站立或行走困难。

2. 体格检查：
• Gower征象：站立困难，孩子需用手从腿部攀爬以站立。
• 肌肉消耗和虚弱，特别是在腿部和骨盆区域，最终会扩展到手臂、颈部和其他区域。
• 由于肌肉被纤维脂肪替代，小腿肌肉可能异常增大（假性肥大）。

3. 诊断测试：
• 肌酸激酶（CK）水平：血液中的水平极高，表明肌肉损伤。
• 基因检测：确认DMD基因的突变，该基因负责产生肌萎缩蛋白。
• 肌肉活检：在肌肉组织中检测到减少或缺失的肌萎缩蛋白。
• 肌电图（EMG）：显示肌肉损伤的异常。
• 心脏评估：由于DMD也会影响心脏，如心电图（ECG）和心脏超声（心动图）可能显示心脏异常。

这些评估有助于诊断DMD并指导治疗选择。

患者： 男性，5岁
症状：
• 行走困难，上楼梯困难
• 经常跌倒
• 小腿肌肉肥大
• 疲劳
• 肌肉疼痛
病史：
• 家族中有杜氏肌营养不良症史
• 运动里程碑延迟
• 没有其他重大疾病史
体格检查：
• Gowers' 征阳性（起立时需要用手帮助）
• 下肢肌肉张力和力量减低
• 小腿肌肉肥大
诊断测试：
• 血清肌酸激酶（CK）水平升高
• 肌电图显示肌肉虚弱
• 肌肉活检显示肌营养不良变化
• 基因检测确认DMD基因突变

杜氏肌肉萎缩症（DMD）是一种以肌肉逐渐退化和虚弱为特征的遗传性疾病。例如，一个典型的病例可能涉及一个7岁的男孩，他在大约5岁时开始表现出跑步、跳跃和爬楼梯的困难。他的父母注意到他经常跌倒并且很难从地板上站起来，他用手在腿上“走”，这种动作被称为Gowers' sign（高尔氏征）。在医疗评估中，他被发现血清肌酸激酶水平升高，这是DMD中肌肉损伤的常见指标。基因检测确认了dystrophin基因的突变，从而诊断出杜氏肌肉萎缩症。随后，患者开始使用皮质类固醇治疗方案以减缓肌肉退化，并被推荐进行物理治疗以尽可能长时间保持肌肉功能。

在鉴别诊断杜氏肌营养不良症（DMD）时，需要考虑几种其他疾病，因为它们有重叠的症状。这些包括：
1. 贝克尔型肌营养不良症 (BMD) - 这是一种较轻的肌营养不良形式，类似于DMD，但发病较晚，进展较慢。
2. 脊髓性肌萎缩症 (SMA) - SMA涉及肌肉无力和萎缩，主要影响脊髓运动神经元。
3. 肢带肌营养不良症 (LGMD) - 这组疾病的特点是主要在臀部和肩部的肌肉无力。
4. 肌张力障碍性肌营养不良 - 其特点是肌肉收缩后无法随意松弛，伴随肌肉无力。
5. 先天性肌营养不良症 (CMD) - 这些症状在出生时或在最初几个月内显现，涉及普遍的肌肉无力和发展延迟。
6. 代谢性肌病 - 这些疾病涉及肌肉能量生产所需酶的缺陷，导致肌肉功能障碍。

每种状况都可能表现出与DMD相似的肌肉无力等症状，因此需要进行彻底的调查和测试以确认正确的诊断。

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by a mutation in the gene that encodes for dystrophin, a protein that helps keep muscle cells intact. This mutation prevents the production of functional dystrophin, leading to muscle damage and the symptoms associated with DMD. This condition typically affects boys and begins in early childhood.

Duchenne Muscular Dystrophy is the most severe form of muscular dystrophy and does not have subtypes. However, it is part of a group of diseases known as dystrophinopathies, which vary in severity and age of onset. These include Becker Muscular Dystrophy, which is similar but less severe than DMD, and other forms that may manifest with milder symptoms or later onset.

To differentially diagnose Duchenne Muscular Dystrophy (DMD), a comprehensive set of patient information and test results is necessary. Here’s a detailed list:
1. Symptoms: Common symptoms of DMD include muscle weakness, which usually begins in the lower limbs and pelvic area but also affects the arms, legs, and trunk. Symptoms often appear in early childhood, around ages 2 to 3. Patients may also exhibit difficulty in standing up, walking, and maintaining balance.
2. Medical History: A detailed family history of any neuromuscular diseases, especially in male relatives, is crucial. Early milestones related to motor skills, such as walking, running, and climbing, as well as any history of frequent falls or difficulty with physical activities, should be noted.
3. Physical Exam: Physical signs such as the Gowers' sign (difficulty standing up without using the hands to "walk" up the legs), enlarged calf muscles, muscle wasting, and contractures are indicative of DMD.
4. Diagnostic Tests:
• Creatine kinase (CK) levels: Elevated levels of CK in the blood are common in boys with DMD due to muscle breakdown.
• Genetic testing: This confirms the presence of mutations in the DMD gene responsible for producing dystrophin, a protein essential for muscle function.
• Muscle biopsy: If genetic testing is inconclusive, a muscle biopsy may be performed to measure dystrophin levels.
• Electromyography (EMG): Although not specific for DMD, EMG can assess the electrical activity of muscles and rule out other neuromuscular disorders.
• Cardiopulmonary tests: As DMD affects cardiac and respiratory muscles, tests such as echocardiograms and pulmonary function tests may be necessary.

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. Here are the typical results from medical history taking, physical examinations, and diagnostic tests for a patient with DMD:

1. Medical History Taking:
• Early symptoms noted in history usually include difficulty with running, jumping, and frequent falls.
• A family history of DMD or other muscular dystrophies may be reported.
• Delayed motor milestones, such as difficulty standing up or walking.

2. Physical Examinations:
• Gower’s sign: Difficulty in rising to a standing position; the child uses their hands to climb up their legs to stand.
• Muscle wasting and weakness, particularly in the legs and pelvis area, eventually progressing to the arms, neck, and other areas.
• Possible enlargement of calf muscles due to fibrofatty replacements of muscle (pseudohypertrophy).

3. Diagnostic Tests:
• Creatine kinase (CK) levels: Extremely high levels in the blood, indicating muscle damage.
• Genetic testing: Confirmation of mutations in the DMD gene, which is responsible for producing dystrophin.
• Muscle biopsy: Decreased or absent dystrophin detected in muscle tissues.
• Electromyography (EMG): Abnormalities suggestive of muscle damage.
• Cardiac evaluation: As DMD also affects the heart, tests like ECG (electrocardiogram) and echocardiography may show heart abnormalities.

These assessments help in diagnosing DMD and guiding treatment options.

Medical Record (English)

Patient: Male, 5 years old
Symptoms:
• Difficulty in walking, climbing stairs
• Frequent falls
• Large calf muscles
• Fatigue
• Muscle pain
Medical History:
• Family history of Duchenne Muscular Dystrophy
• Delayed motor milestones
• No history of other significant illnesses
Physical Examination:
• Gowers' sign positive (difficulty in rising to a standing position without using hands)
• Reduced muscle tone and strength in lower limbs
• Hypertrophy of calf muscles
Diagnostic Tests:
• Elevated serum creatine kinase (CK) levels
• Electromyography shows muscle weakness
• Muscle biopsy indicates dystrophic changes
• Genetic testing confirms mutations in the DMD gene

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. For instance, a typical case might involve a 7-year-old boy who began showing signs of difficulty in running, jumping, and climbing stairs around the age of 5. His parents noticed that he frequently fell and had a hard time getting up from the floor, using his hands to "walk" up his legs in a maneuver known as the Gowers' sign. Upon medical evaluation, he was found to have elevated serum creatine kinase levels, a common indicator of muscle damage in DMD. Genetic testing confirmed mutations in the dystrophin gene, leading to a diagnosis of Duchenne Muscular Dystrophy. The patient was then started on a regimen of corticosteroids to slow muscle degeneration and was referred to physical therapy to maintain muscle function as long as possible.

In the differential diagnosis of Duchenne Muscular Dystrophy (DMD), several other conditions need to be considered due to overlapping symptoms. These include:
1. Becker Muscular Dystrophy (BMD) - This is a milder form of dystrophy, similar to DMD but with later onset and slower progression.
2. Spinal Muscular Atrophy (SMA) - SMA involves muscle weakness and atrophy, primarily affecting the spinal motor neurons.
3. Limb-girdle Muscular Dystrophy (LGMD) - This group of disorders is characterized by muscle weakness primarily in the hips and shoulders.
4. Myotonic Dystrophy - It is distinguished by an inability to relax muscles at will following contractions, along with muscle weakness.
5. Congenital Muscular Dystrophies (CMD) - These are evident at birth or within the first few months, involving general muscle weakness and developmental delays.
6. Metabolic myopathies - These involve deficiencies in enzymes necessary for muscle energy production, leading to muscle dysfunction.

Each of these conditions may present with muscle weakness and other symptoms similar to DMD, thus necessitating thorough investigation and testing to confirm the correct diagnosis.