Glossary - LGMD Awareness Foundation

LGMD啓発デー・ツールキット

Join the LGMD Awareness Foundation in our mission to shine a global spotlight on limb-girdle muscular dystrophy (LGMD) and champion the cause for improved access to diagnosis, care, and treatment for those living with this condition. Our Awareness Day Toolkit is designed to empower and engage our community in advocacy like never before.

LGMD啓発デー・ツールキット

LGMD啓発デーについて

LGMD啓発デーは、この稀な病気に注意を喚起するための毎年恒例の取り組みである。

LGMD啓発デーについてもっと知る

アクティブ・エクササイズ

自分の力を使って行う運動（受動的運動を参照）。

日常生活動作（ADL）

Refers to the activities we normally do in daily routine including any daily activity we perform for self-care such as feeding ourselves, bathing, dressing, toileting, grooming, work, homemaking, parenting responsibilities and leisure. The ability or inability to perform ADLs can be used as a very practical measure of ability/disability in many disorders.

アクアティクス理学療法／ハイドロセラピー

The evidence-based and skilled practice of physical therapy in an aquatic environment by a physical therapist involving activity performed in water to assist in rehabilitation. It is a form of exercise in a warm pool and refers to treatments and exercises performed in a warm water pool for relaxation, fitness, physical rehabilitation, and other therapeutic benefit. This is a popular treatment for patients with neurologic and musculoskeletal conditions.

動脈血ガス - (ABG)

is a test of blood from an artery and measures the amounts of certain gases (such as oxygen and carbon dioxide) that are in arterial blood. The results of this test give clues about how well your lungs, heart, and kidneys are working. An ABG test involves puncturing an artery with a thin needle and syringe and drawing a small volume of blood.

抱負

The drawing of a foreign substance, such as mucus or food, into the respiratory tract during inhalation.

補助換気

機械換気を参照

萎縮

筋肉の衰え。

自己免疫疾患

Conditions in which the immune system produces antibodies that attack the body’s own cells, for example: Crohn’s Disease, dermatomyositis, polymyositis, and myasthenia gravis. LGMD is not an autoimmune disease.

常染色体遺伝

男性も女性も同じように影響を受ける遺伝パターン。異常遺伝子はXまたはY染色体（性染色体として知られている）上にはない。

AVAP換気

Average volume-assured pressure support. It is a form of non-invasive positive pressure ventilation that adjusts the pressure support (PS) to maintain a target average ventilation over several breaths.

生検

検査のために少量の組織を取り除くこと。

BPAP換気（またはBiPAP）

Bilevel positive airway pressure. A type of noninvasive ventilation that helps with breathing by providing a flow of air delivered through a face mask. The air is pressurized by a machine, which delivers it to the face mask through long, plastic tubing. The machine delivers the air at two different pressures which alternate: A higher pressure to breathe in (called inspiratory positive airway pressure, or IPAP) and a lower pressure for breathing out (called expiratory positive airway pressure, or EPAP).

クエン酸カルシウム

This is a type of calcium and is often recommended by many neurologists for those with muscular dystrophy to prevent osteoporosis.

カルパイン症

A group of limb-girdle muscular dystrophies (LGMD) caused by mutations in the CAPN3 gene. LGMD2A/LGMD R1 calpain3-related is the more common form of Calpainopathy and has an autosomal recessive inheritance pattern, whereas LGMD 1i/LGMD D4 calpain3-related is the form with an autosomal dominant inheritance pattern.

カプノグラフ

also known as capnometer; a monitoring device that painlessly measures the concentration of carbon dioxide in exhaled air (end tidal CO2)

二酸化炭素（CO2）

What is exhaled in breathing. In some forms of MD, CO2 is retained, which means that an individual is not breathing out the CO2 or not inhaling enough air due to weakened breathing muscles.

心臓

心臓に関連する。

心臓専門医

Doctors who specialize in preventing, diagnosing, and treating diseases of the heart and blood vessels.

心筋症

Refers to diseases of the heart muscle. In cardiomyopathy, the heart muscle becomes enlarged, thick, or rigid, and in some cases, the muscle tissue in the heart is replaced with scar tissue. As the disease gets worse, the heart becomes weaker and less able to pump blood through the body, which can lead to heart failure or arrhythmias.

キャリア

An individual who has inherited a genetic mutation but does not have any symptoms. They have one normal and one abnormal copy of a pair of genes which cause a genetic disorder. A carrier will usually remain unaffected throughout his or her life but may pass the faulty gene on to their children.

染色体

DNA is packaged in tiny units called chromosomes. Each chromosome contains a single long and tightly packed piece of DNA with many different genes. Every human cell contains 23 pairs of chromosomes, and each pair contains one chromosome from each parent.

臨床研究と治験

Clinical studies and trials involve research using human volunteers (also called participants) that is intended to add to medical knowledge. Developing new medicines and treatments is a lengthy and complex process, relying heavily on volunteer participation to help with better understanding of the disease process as well as to evaluate potential therapies for safety and effectiveness in clinical trials. Clinical trials are conducted in a series of steps, called phases – each phase is designed to answer a separate research question.

先天性

形質や特性が先天的なものである場合、それは出生時に存在することを意味する。

拘縮

An abnormal, often permanent contraction or shortening of the muscle (or tendon) that causes the joints to shorten and become very stiff. This prevents normal movement of a joint or other bodypart. Stretching helps to prevent this issue but still can occur. In some instances, surgery is required to release a contracture.

咳アシスト

A trademarked device by Philips Respironics that uses positive airway pressure that rapidly reverses to negative pressure to assist an individual’s cough; sometimes called a cough stimulating device or device for cough augmentation

CPAP（持続陽圧呼吸療法

A treatment that uses mild air pressure to keep the airways open. CPAP typically is used by people who have breathing problems, such as sleep apnea. CPAP is no longer recommended for use in neuromuscular disease patients as it provides one continuous pressure of air for both inhaling and exhaling. As such, it can be uncomfortable for weakened breathing muscles and does not assist with ventilation (moving air into and out of the lungs) for those with weak inspiratory muscles.

クレアチンキナーゼ（CK）

A type of protein found in muscle. Some forms of muscular dystrophy are associated with high levels of creatine kinase in a blood test because when muscles are damaged due to disease or injury, the creatine kinase leaks into the bloodstream.

診断基準

Guidelines, rules or characteristics used by a clinician to diagnose somebody with a particular condition.

ダイヤフラム

The primary muscle of breathing that stretches across the area between your chest and waist to support your lungs. This is often the area that becomes weak and leads to respiratory issues in MD.

遠位

手や足など、体の中心から離れていることを指す。

遠位型ミオパチー

A group of conditions predominantly affecting the muscles farthest away from the center of the body, for example the hands and feet.

DNAまたはデオキシリボ核酸

A long molecule that contains our unique genetic code. Like a recipe book it holds the instructions for making all the proteins in our bodies.

優性遺伝

A method of genetic inheritance, whereby a single abnormal copy of a gene causes disease, even though a good copy of the gene is also present. We inherit one copy of each gene from our mother and one from our father. Individuals with a dominant condition have a 50% chance of passing on the altered gene, and resulting disease, to their children.

耐久性医療機器（DME）

Any medical equipment that provides therapeutic benefits to a patient in need because of certain medical conditions and/or illnesses. Examples may include wheelchairs, scooters, bath benches, grab bars, patient lifts and other disability related equipment.

嚥下障害

嚥下困難。

ジストログリカノパチー

A group of limb girdle muscular dystrophies (LGMD) caused by mutations in each dystroglycan-related gene. Each type of dystroglycanopathy is genetically different but people have similar symptoms.These include LGMD 2I/LGMD R9 dystroglycan-related (FKRP), LGMD 2K/LGMD R11 dystroglycan-related (POMT1), LGMD 2M/LGMD R13 dystroglycan-related (FKTN), LGMD 2N/LGMD R14 dystroglycan-related(POMT2), LGMD 2O/R15 dystroglycan-related (POMGnT1), and LGMD 2P/R16 dystroglycan-related (DAG1).

ジストロフィック

Relating to or afflicted with dystrophy. Muscles affected by muscular dystrophy may be described as dystrophic.

ジストロフィー

The word originates from two Greek words, ‘dys’ (‘faulty’) and ‘trophe’ (‘nourishment’). Muscular dystrophy refers to a group of disorders characterized by progressive muscle weakness and loss of muscle tissue.

ジスフェリン症

A muscular dystrophy that is caused by mutations in the dysferlin gene regardless of the clinical presentation.

心エコー図

心臓の画像を作成するために超音波を使用すること。

駆出率

This is a measurement in the heart to see how well the heart muscle squeezes. When a patient has an echocardiogram, a result below 50% is indicative of a weak heart muscle. The term “ejection fraction” refers to the percentage of blood that is pumped out of a filled ventricle with each heartbeat. The left ventricle is the heart’s main pumping chamber, so ejection fraction is usually measured only in the left ventricle (LV). An LV ejection fraction of 55 percent or higher is considered normal. An LV ejection fraction of 50 percent or lower is considered reduced. Experts vary in their opinion about an ejection fraction between 50 and 55 percent, and some would consider this a “borderline” range.

心電図（ECG）

A test which records the electrical activity of the heart through electrodes attached to the skin. In some neuromuscular disorders, you can observe issues with heart electrical issues.

筋電図（EMG）

A test that assesses the electrical activity of the muscles and the nerves controlling the muscles.It is used to help diagnose neuromuscular disorders. There are two kinds of EMG in widespread use:intramuscular (needle) and surface EMG. To perform intramuscular EMG, a needle electrode or a needle containing two fine-wire electrodes is inserted through the skin into the muscle tissue.Intramuscular EMG may be considered too invasive or unnecessary in some cases and an electrode placed on the surface of the skin is used.

EPAP換気

Expiratory positive airway pressure. The pressure we exhale against with a bi-level ventilation device or as part of a bi-level mode of ventilation on a ventilator.

疲労

特にハードワークや努力によって引き起こされる大きな疲労。

強制生命維持能力（FVC）

Refers to the amount of air one can exhale after inhaling as completely as possible. This is the value that is often measured by doctors and can be lower for MD patients. Restrictive lung disease is often used as a term in those with MD who have reduced FVC. However, the lungs are healthy and breathing issues result from weak muscles that interfere with inhalation and exhalation, so it is important to note that the lungs themselves are healthy.

強制生命維持能力（FVC）

遺伝子

遺伝子は遺伝の基本的な物理的・機能的単位である。遺伝子はDNAからできている。

遺伝子変異

A gene mutation (also called a gene variant) is an alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes.

遺伝子治療

A technique that uses genes to treat disease. This is often done by introducing a new gene into a cell. The new gene may be used to replace a gene that is rendered inactive due to a mutation.Viruses are often used to deliver the new gene into the cells.

遺伝カウンセリング

Information and support provided by a specialist such as a genetic counselor, a doctor, or a nurse, to people who have genetic conditions in their families, or are concerned about a genetically transmitted condition. Genetic counseling can provide guidance when a person with a genetic disease or a carrier of a genetic disease is planning for pregnancy.

遺伝性疾患

Conditions or diseases that are determined by the genes or chromosomes are referred to as genetic disorders.

遺伝子検査

A type of medical test that identifies changes in chromosomes, genes, or proteins through a blood or saliva sample. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.

ゲノム

A genome is an organism’s complete set of genetic instructions. Each genome contains all the information needed to build that organism and allow it to grow and develop.

過呼吸

血液中の二酸化炭素濃度が高い状態。多くの場合、換気が不十分なために起こる。

低呼吸

呼吸が浅い。

筋緊張低下

Refers to decreased muscle tone, which can indicate a health problem or disorder, including congenital muscular dystrophy. Infants with hypotonia can seem floppy and like a rag doll.

低酸素血症

血液中の酸素濃度が異常に低い。

継承

個人が両親や祖先から特徴を獲得する過程。

侵襲的換気

Refers to ventilation delivered via tubing from a ventilator through a tracheostomy, a surgically inserted hole in the windpipe (trachea).

不随意筋

Involuntary muscles are the muscles that cannot be controlled by will or conscious and are often associated with organs that exhibit slow and regular contractions and relaxation. These muscles are mostly found lining the walls of internal organs like the stomach, intestine, urinary bladder, and blood capillaries.

肢帯型筋ジストロフィー（LGMD）

A term used for a GROUP of rare neuromuscular conditions which are inherited and known to cause progressive muscle weakness & wasting. There are more than 30 different forms of LGMD (called subtypes) and all cause weakness of the ’limb-girdle’ muscles — the muscles surrounding the shoulders and hips. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.

脊柱前弯症

This term describes the inward curve of the lumbar spine just above the buttocks. A small degree of lordosis is normal, but too much curving of the lumbar spine, called swayback, can cause lower back pain. Swayback can occur in some types of muscular dystrophy, such as limb girdle muscular dystrophy.

磁気共鳴画像法（MRI）

A non-invasive body imaging procedure that uses powerful magnets and radio waves to construct pictures of the internal structures of the body.

機械的換気（換気補助または補助人工呼吸とも呼ばれる）

The medical procedure used to aid or replace breathing when a patient is unable to breathe adequately themselves. Devices prescribed for those living with neuromuscular disorders to assist with their ventilation (moving air into and out of the lungs) include bi-level devices (i.e., BiPAP) and portable ventilators. It includes the use of equipment that supports ventilation by means of volume or positive pressure, either invasively (tracheostomy) or non-invasively (masks, nasal pillows, and mouthpieces).

筋生検

検査のために少量の筋肉組織を除去すること。

筋繊維

The basic unit of muscle tissue, also called a muscle cell. Individual muscles are made up of hundreds or thousands of muscle fibers that are bundled together.

ミオパシー

神経機能障害に起因しない筋肉のあらゆる疾患。

ミオパシー

筋肉に影響を及ぼす病態で、通常は神経を介さない。

筋炎

筋肉の炎症。

筋緊張症

筋肉が収縮しても緩むのが遅い状態（筋硬結）。

自然史研究

A study that follows a group of people over time who have, or are at risk of developing, a specific medical condition or disease. A natural history study collects health information to understand how the medical condition or disease develops and how to treat it.

神経科医

Doctors who specialize in diseases and disorders of the brain and nervous system. Even though muscular dystrophy is a muscle disease, a neurologist is often the specialist who coordinates the care of a person with muscular dystrophy, both providing treatment, and referring the person to any number of specialists and sub specialists, as needed.

神経筋障害 (NMD)

A wide range of diseases affecting the nerves and muscles of the body, often leading to progressive muscle weakness.

神経障害

A medical term describing disorders of the nerves which carry signals to and from the muscles in the legs and arms. These nerves are known as the peripheral nerves.

命名法

Refers to a naming system. With LGMD, the different subtypes are identified by the gene mutation causing the condition and by the autosomal inheritance pattern of that subtype (dominant or recessive).

非侵襲的人工呼吸（NIV）

Refers to the administration of ventilatory (breathing) support without using an invasive artificial airway (endotracheal tube or tracheostomy tube). Non-invasive ventilation does not require asurgical procedure. Individuals use a mask (i.e., full face, nasal, or nasal pillows) or other typeof mouthpiece interface (i.e., angled mouthpieces or straw) that can be wheelchair-connected via gooseneck tubing to deliver air from a bi-level device (BiPAP) or portable ventilator to ventilate the lungs (move air into and out of them).

希少疾病

希少疾患を参照。

整形外科医

Doctors who specialize in the bones and joints and the muscles, tendons, and ligaments attached to the bones.

装具

装具やスプリントなどの補助器具を指す。

パネルテスト

The selection of genes to be sequenced together in one genetic test. For example, many neurologists will select a neuromuscular panel test when testing to determine which LGMD subtype a person might have. NGS became widely used around 2014. Prior to that, a genetic sequencing technique called Sangar sequencing was used and genes were sequenced one at a time.

パッシブ・エクササイズ

人が行う運動で、他の人や機械の努力によってすべての動きが行われるもの。

病原性突然変異

疾患の発症に関与する遺伝子変異（遺伝子バリアントとも呼ばれる）。

患者登録

A collection of secondary data related to patients with a specific diagnosis or condition. They play an important role in advancing research and post marketing surveillance of pharmaceuticals.

肺炎

A condition where the lung tissue becomes inflamed and filled with fluid. This can be caused by infection or injury to the lungs, and causes symptoms of coughing, chest pain, and difficulty inbreathing. In people with reduced coughing reflexes due to a reduced forced vital capacity, pneumonia is a risk. It is important to use a Cough Assist during illness to clear secretions if necessary.

近位

体の中心に近い。

眼瞼下垂症

眼瞼下垂。

肺

Anything that affects, occurs within, or relates to the lungs. Clinicians measure pulmonary function, or lung function to assess how well a patient can breathe.

肺機能検査 - (PFT)

A test that is designed to measure how well the lungs are working; PFTs gauge how the lungs are expanding and contracting (when a person inhales and exhales) and measure the efficiency of the exchange of oxygen and carbon dioxide between the blood and the air within the lungs. The results give your health-care team detailed information about your respiratory system, and they may point out its potential weaknesses.

呼吸器専門医

肺および肺に関連する構造（呼吸を制御する筋肉など）の障害を専門とする医師。

パルスオキシメーター

A device that measures the oxygen saturation of arterial blood by utilizing a sensor attached typically to a finger, toe, or ear to determine the percentage of oxyhemoglobin in blood.

リハビリテーション医

いわゆる "身体医学とリハビリテーション "を専門とする医師たち。

精神科医

メンタルヘルスと感情の問題を専門とする医師。

可動域運動（ROM）

Exercise that involves putting a joint through its normal range of motion (as far as it can go in any direction); can be done actively or passively.

希少疾患

Rare diseases are diseases which affect a small number of people compared to the general population and specific issues are raised in relation to their rarity. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US. In Europe, a disease is rare when it affects 1 person per 2000. Rare diseases became known as orphan diseases because drug companies historically were not interested in adopting them to develop treatments. All limb girdle muscular dystrophy subtypes are rare diseases.

劣性遺伝

A form of inheritance in which a faulty copy of a gene is inherited from each parent (to develop the disorder an individual must have two copies of the faulty gene). Includes X-linked recessive and autosomal recessive modes of inheritance.

呼吸不全

呼吸機能が不十分な状態。

筋力低下に伴う呼吸不全

筋力低下による呼吸不全で、肺組織の疾患ではないことが多い。

拘束性肺疾患

Refers to chronic lung conditions that limit the ability of a person’s lungs to expand during inhalation.

横紋筋融解症

A breakdown of muscle tissue that releases a damaging protein (myoglobin) into the blood. Symptoms include dark, reddish urine, a decreased amount of urine, weakness, and muscle aches. Myoglobin can damage the kidneys. Early treatment with aggressive fluid replacement reduces the risk of kidney damage.

サルコグリカノポチー

Sarcoglycanopothies are a group of limb-girdle muscular dystrophies (LGMD) caused by faults in one of the four genes which give instructions to produce four proteins (sarcoglycans) important to the muscle fibers. Each type of sarcoglycanopathy is genetically different but people have similar symptoms. These include LGMD 2C/ LGMD R5 Gamma-sarcoglycan-related; LGMD 2D/LGMD R3Alpha-sarcoglycan-related; LGMD 2E/LGMD R4 Beta-sarcoglycan-related; and LGMD 2F/LGMD R6Delta-sarcoglycan-related.

サルコレマ

各筋繊維を取り囲む膜または皮膚。

肩甲骨のウイング

Involves one or both shoulder blades sticking out from the back rather than lying flat and can occur in some forms of LGMD due to the wasting of specific muscle groups around the scapulae.

脊柱側湾症

背骨の側湾異常。

骨格筋

Skeletal muscles are all the muscles that are attached to our bones. They are also called “voluntary”muscles, which means we can “control” their activity. These muscles are used to create movement, by applying force to bones and joints, via contraction. Other types of muscle include cardiac (heart)and smooth (blood vessels, stomach, intestines) muscle.

スパイロメトリー

(肺機能検査（PFT）の中で最も一般的なもので、肺機能、具体的には吸ったり吐いたりできる空気の量（体積）や速度（流量）を測定する。

頻脈

心拍数が異常に速い。

タリペス

足の位置がねじれる先天性欠損症で、内反足とも呼ばれる。

潮汐量

一回の呼吸で吸い込む空気の量。

気管

Also known as windpipe, this cartilaginous and membranous tube descends from the larynx and branches into the left and right main bronchi.

気管切開

A surgical procedure that creates an opening for an artificial airway to maintain an individual’s ability to breathe.

超音波

A medical test that uses reflected sound waves to ‘see’ a hidden object. Now widely used in medicine to obtain images of muscle structure, internal organs or an unborn child.

意義不明の変異（VOUSまたはVUS）

疾患リスクとの関連が不明な遺伝子変異。

換気

The process by which the exchange of oxygen (O2) and carbon dioxide (CO2) occurs in the alveoli in the lungs; a constant process of maintaining the proper balance between the O2 and CO2.

ベンチレーター

A machine designed to move breathable air into and out of the lungs, to provide breathing for apatient who is physically unable to breathe or breathing insufficiently; can be used with noninvasive ventilation or with invasive ventilation.

随意筋

Muscles that can be moved by the free will of the person and are almost always associated with the skeleton system. These muscles are attached to the bones by means of tendons, and they are responsible for all kinds of movements.

ホールエクソームシーケンス（WES）

A medical test focused on trying to try to find a genetic cause of your symptoms. Most people who have WES have already had some genetic testing. WES is one of the most extensive genetic tests available. Because WES looks at more genes than most genetic tests, it may find a genetic cause for your symptoms even if previous genetic testing did not. The test utilizes a blood sample for analysis.

全ゲノムシーケンス（WGS）

A laboratory process that is used to determine nearly all of the approximately 3 billion nucleotides of an individual’s complete DNA sequence, including non-coding sequence.

X連鎖遺伝

A form of inheritance where a gene lies on the X chromosome. X-linked genes can be dominant but are usually recessive. Girls who carry an altered gene are usually not affected, since they have a second, normal copy of the gene. They are carriers, however, and can pass the affected gene on in50% of their pregnancies. Boys who have only one X chromosome do not have a second normal copy of the gene, so will be affected by the disorder. They will pass on the altered gene to all of their daughters, who will be carriers, but to none of their sons.