Active exercise

Exercise that a person does using his or her own strength (see passive exercise).

Activities of daily living (ADLs)

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.

Aquatics Physical Therapy / Hydrotherapy

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.

Arterial blood gas – (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.


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

Assisted ventilation

See Mechanical ventilation


Muscle wasting.

Autoimmune disorders

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.

Autosomal inheritance

Inheritance pattern that affects both males and females equally. The abnormal gene is not on the X or Y chromosomes (known as the sex chromosomes).

AVAP ventilation

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.


Removal of a small amount of tissue for examination.

BPAP ventilation (or 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).

Calcium Citrate

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


A group of limb-girdle muscular dystrophies (LGMD) caused by mutations in the CAPN3 gene. LGMD 2A/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.


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

Carbon Dioxide (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.


Related to the heart.


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


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.


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.


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.

Clinical Studies and Trials

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.


If a trait or characteristic is congenital, it means it is present at birth.


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 body part. Stretching helps to prevent this issue but still can occur. In some instances, surgery is required to release a contracture.


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, or continuous positive airway pressure

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.

Creatine kinase (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.

Diagnostic criteria

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


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.


Refer to bein away from the center of the body, for example, the hands and feet.

Distal myopathies

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

DNA or deoxyribonucleic acid

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.

Dominant inheritance

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.

Durable medical equipment (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.


Difficulty in swallowing.


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).


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


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.


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


The use of ultrasound to produce images of the heart.

Ejection Fraction

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.

Electrocardiography (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.

Electromyography (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 ventilation

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.


Great tiredness caused especially by hard work or effort.

Forced vital capacity (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.

Forced vital capacity (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.


A gene is the basic physical and functional unit of heredity. Genes are made up of DNA.

Gene mutation

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.

Gene therapy

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.

Genetic counseling

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.

Genetic disorders

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

Genetic testing

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.


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.


High levels of carbon dioxide in the blood; often caused by inadequate ventilation.


Shallow breathing.


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.


Abnormally low levels of oxygen in the blood.


The process by which an individual acquires characteristics from his or her parents or ancestors.

Invasive ventilation

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

Involuntary muscles

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.

Limb-girdle muscular dystrophy (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.


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.

Magnetic resonance imaging (MRI)

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

Mechanical ventilation (also called ventilatory assistance or assisted ventilation)

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).

Muscle Biopsy

Removal of a small amount of muscle tissue for examination.

Muscle fiber

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.


Any disease of the muscles that is not caused by nerve dysfunction.


A condition affecting muscle, usually without involvement of the nerves.


Muscle inflammation.


A condition in which muscles are slow to relax after contracting (muscle stiffness).

Natural History Study

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.


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 subspecialists, as needed.

Neuromuscular Disorders (NMD)

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


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.


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).

Non-invasive mechanical ventilation (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 a surgical procedure. Individuals use a mask (i.e., full face, nasal, or nasal pillows) or other type of 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).

Orphan Disease

See rare disease.


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


Refers to assistive devices such as braces and splints.

Panel testing

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.

Passive Exercise

Exercise that a person does in which another individual or a machine’s efforts does all the movement.

Pathogenic mutation

A gene mutation (also called a gene variant) that contributes to the development of a disease.

Patient Registry

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.


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 in breathing. 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.


Close to the center of the body.


Droopy eyelids.


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.

Pulmonary Function Tests – (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.


Doctors who specialize in disorders of the lungs and structures associated with the lungs, such as the muscles that control breathing.

Pulse oximeter

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.

Physiatrists (rehabilitation doctors)

Doctors who specialize in what is known as “physical medicine and rehabilitation.”


Doctors who specialize in mental health and emotional issues.

Range-of-motion exercise (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.

Rare Disease

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.

Recessive Inheritance

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.

Respiratory failure

A condition in which respiratory function is inadequate to meet the body’s needs.

Respiratory failure related to muscle weakness

Respiratory failure as a result of muscle weakness and typically not diseases of the lung tissue.

Restrictive lung disease

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


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.


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 R3 Alpha-sarcoglycan-related; LGMD 2E/LGMD R4 Beta-sarcoglycan-related; and LGMD 2F/LGMD R6 Delta-sarcoglycan-related.


A membrane or skin surrounding each muscle fiber.

Scapular winging

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.


Abnormal lateral curvature of the spine.

Skeletal muscle

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.


(meaning the measuring of breath) is the most common of the pulmonary function tests (PFTs), measuring lung function, specifically the amount (volume) and/or speed (flow) of air that can be inhaled and exhaled.


Abnormally rapid heart rate.


A birth defect in which the foot is twisted out of position, also called club foot.

Tidal volume

The amount of air we inhale with each breath.


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


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


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.

Variant of Unknown Significance (VOUS or VUS)

A gene mutation for which the association with disease risk is unclear.


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.


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

Voluntary muscles

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.

Whole Exome Sequencing (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.

Whole Genome Sequencing (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-linked inheritance

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 in 50% 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.