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Items: 17

1.

Respiratory failure

Respiratory failure happens when not enough oxygen passes from your lungs into your blood. Your body's organs, such as your heart and brain, need oxygen-rich blood to work well. Respiratory failure also can happen if your lungs can't remove carbon dioxide (a waste gas) from your blood. Too much carbon dioxide in your blood can harm your body's organs. Diseases and conditions that affect your breathing can cause respiratory failure. Examples include. -Lung diseases such as COPD (chronic obstructive pulmonary disease), pneumonia, pulmonary embolism, and cystic fibrosis. -Conditions that affect the nerves and muscles that control breathing, such as spinal cord injuries, muscular dystrophy and stroke. -Damage to the tissues and ribs around the lungs. An injury to the chest can cause this damage. -Drug or alcohol overdose. -Injuries from inhaling smoke or harmful fumes. Treatment for respiratory failure depends on whether the condition is acute (short-term) or chronic (ongoing) and how severe it is. It also depends on the underlying cause. You may receive oxygen therapy and other treatment to help you breathe. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
2.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
3.

Respiratory failure

A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. [from HPO]

MedGen UID:
505385
Concept ID:
CN002603
Finding
4.

Myopathy

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.  [from MedlinePlus]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
5.

Muscle weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
57735
Concept ID:
C0151786
Finding; Sign or Symptom
6.

Autosomal dominant inheritance

MedGen UID:
879993
Concept ID:
CN235389
Finding
7.

Limb-girdle muscle atrophy

Muscular atrophy affecting the muscles of the limb girdle. [from HPO]

MedGen UID:
853267
Concept ID:
C1404521
Disease or Syndrome
8.

Myofibrillar myopathy

MedGen UID:
807576
Concept ID:
CN220135
Finding
9.

Myofibrillar myopathy

Myofibrillar myopathy is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is present in about 80% of individuals and is more pronounced than proximal weakness in about 25%. A minority of individuals experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy is present in about 20% of affected individuals. Overt cardiomyopathy is present in 15%-30%. [from GeneReviews]

MedGen UID:
395532
Concept ID:
C2678065
Disease or Syndrome; Finding; Finding
10.

Respiratory insufficiency due to muscle weakness

MedGen UID:
332136
Concept ID:
C1836141
Finding
11.

Limb-girdle muscle atrophy

MedGen UID:
330868
Concept ID:
C1842552
Finding
12.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
13.

Neuromuscular Diseases

Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include. -Amyotrophic lateral sclerosis. -Multiple sclerosis. -Myasthenia gravis. -Spinal muscular atrophy. Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.  [from MedlinePlus]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
14.

Limb-girdle muscle weakness

Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. [from HPO]

MedGen UID:
505515
Concept ID:
CN002999
Finding
15.

Neck flexor weakness

MedGen UID:
355247
Concept ID:
C1864575
Finding
16.

Limb-girdle muscle weakness

Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. [from HPO]

MedGen UID:
347625
Concept ID:
C1858127
Finding
17.

Neck flexor weakness

Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). [from HPO]

MedGen UID:
334801
Concept ID:
C1843637
Finding
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