Dominic Stone
Muscle degeneration can be hereditary, as seen in cases of muscular dystrophy, a group of inherited diseases that cause weakness and wasting of muscle tissue. It is caused by genetic mutations that interfere with the production of proteins necessary for healthy muscle function. Duchenne muscular dystrophy, the most common form, typically affects young boys and is caused by a mutation on the X chromosome. Girls can be carriers and experience mild symptoms. Other types of muscular dystrophy include Becker, Facioscapulohumeral, Congenital, and Limb-girdle, each with unique characteristics and varying ages of onset. While there is no cure, treatments aim to manage symptoms and slow disease progression. Additionally, muscle atrophy, or the wasting of muscle mass, can also have genetic causes, leading to muscle degeneration.
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What You'll Learn
Duchenne muscular dystrophy
DMD is characterised by progressive muscle loss, typically beginning in childhood with the hips, thighs, shoulders, and pelvis affected first. As the disease progresses, muscle loss extends to the arms, lower legs, and trunk. Affected muscles may appear larger due to an increase in fat content, a phenomenon known as pseudohypertrophy. This fat replacement of muscle tissue can also lead to skeletal deformities such as scoliosis, an abnormal curvature of the spine.
The onset of muscle weakness in DMD usually occurs around the age of four, with rapid progression. By the age of 12, most individuals with DMD lose the ability to walk and may require a wheelchair. In the teen years, the breathing and heart muscles may weaken, leading to potential heart failure and respiratory impairment. Some individuals with DMD may also experience intellectual disabilities and behavioural issues.
DMD is passed on from parent to child, typically following an X-linked recessive inheritance pattern, with the mother being the carrier. However, in about one-third of cases, DMD occurs due to spontaneous genetic mutations during pregnancy, even in families with no previous history of the disease.
While there is currently no cure for DMD, treatments such as deflazacort (Emflaza) and "exon-skipping" drugs have been approved to help manage symptoms and slow the progression of the disease. Clinical trials are ongoing, and new medicines are being developed to treat and potentially cure DMD.
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Becker muscular dystrophy
Muscle degeneration can be hereditary, and Becker Muscular Dystrophy (BMD) is indeed a hereditary condition. It is a genetic disease caused by a gene on the X chromosome that mothers carrying the gene can pass to their sons. It is one of nine types of muscular dystrophy, a group of degenerative diseases that primarily affect voluntary muscles. BMD is less common and less severe than Duchenne muscular dystrophy (DMD), and it is named after German doctor Peter Emil Becker, who first described this variant of DMD in the 1950s.
BMD is characterised by progressive muscle weakness, most notably in the proximal lower limbs, the hip and pelvis areas, and then progressing to the thighs and shoulders. The heart is also affected by BMD, as it is made up mostly of muscle. Cardiomyopathy, or a weakening of the heart muscles, can lead to heart failure and the need for a transplant if left untreated. Other complications of progressive muscle weakness include trouble walking, difficulty with daily activities if arm and shoulder muscles are affected, and hardened or deformed joints (contractures).
The onset of BMD symptoms varies widely between 5 and 60 years of age, with symptoms usually appearing at a later age than DMD. The course of BMD is slower and less predictable than DMD, and individuals affected may begin to waddle, walk on their toes, or push their abdomen forward when walking to maintain balance and compensate for the lack of strength in the hips and legs.
Diagnostic tests for BMD include blood tests, muscle biopsies, electromyograms, and electrocardiograms (ECGs). While there is currently no cure for BMD, doctors may prescribe steroid medications to help individuals remain ambulatory for as long as possible. Physical and occupational rehabilitation professionals can also design exercise programs and teach stretching activities to help minimise contractures.
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Myotonic muscular dystrophy
Muscle degeneration can be hereditary. Muscular dystrophy, for example, is a group of inherited diseases that cause weakness and wasting away of muscle tissue. It is caused by abnormal genes (mutations) that interfere with the production of proteins needed to form healthy muscles. Each form of muscular dystrophy is caused by a genetic mutation particular to that type of disease. Most of these mutations are inherited.
Myotonic dystrophy (DM) is a form of muscular dystrophy that affects muscles and many other organs in the body. It is characterised by an inability to relax muscles following contractions, known as myotonia. Facial and neck muscles are usually the first to be affected. People with this form typically have long, thin faces; drooping eyelids; and swan-like necks.
There are two types of myotonic dystrophy: Type 1 DM (DM1) and Type 2 DM (DM2). DM1 occurs when a gene on chromosome 19 called DMPK contains an abnormally expanded section located close to the regulation region of another gene, SIX5. DM2, recognised in 1994 as a milder version of DM1, is caused by an abnormally expanded section in a gene on chromosome 3 called ZNF9. DM2 was originally called PROXIMAL myotonic myopathy (PROMM).
Myotonic dystrophy is the most common muscular dystrophy in people of European ancestry. Globally, DM has an incidence of 1 in 3,000 people, though some regions, such as Quebec, have demonstrated an incidence of 1 in 500. In most populations, type 1 is more common than type 2. The prevalence of DM is about 10 cases per 100,000 individuals.
There is currently no cure for myotonic dystrophy, but certain treatments and therapies can help manage symptoms and improve quality of life.
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Facioscapulohumeral muscular dystrophy
Muscle degeneration can be hereditary. Muscular dystrophy, a group of diseases that cause progressive weakness and loss of muscle mass, is a genetic condition that is often inherited. It occurs when a defective gene interferes with the production of proteins needed to form healthy muscles.
One type of muscular dystrophy is facioscapulohumeral muscular dystrophy (FSHD). FSHD is a genetic muscle disorder that affects the muscles of the face, shoulder blades, and upper arms. The condition gets its name from the Latin words for these body parts: "facies" (face), "scapula" (shoulder blade), and "humerus" (upper arm).
FSHD is characterised by muscle weakness and wasting (atrophy) that typically begins in the face, shoulders, and upper arms but can spread to other muscle groups over time. The onset and severity of FSHD vary widely, with some cases appearing in adolescence while others may not become noticeable until later in life. In rare cases, FSHD can also affect the heart or breathing muscles.
Researchers have identified two types of FSHD: type 1 (FSHD1) and type 2 (FSHD2). Both types present with the same signs and symptoms but differ in their genetic cause. FSHD is caused by genetic changes involving the long arm of chromosome 4, specifically in a region of DNA called D4Z4. This region typically has a large number of methyl groups, but in FSHD, there is a shortage of these groups, leading to the condition.
There is currently no cure for FSHD, but treatments can help manage symptoms and slow the progression of the disease.
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Limb-girdle muscular dystrophy
Muscle degeneration can be hereditary, and muscular dystrophy is a group of inherited diseases that cause muscle weakness and wasting of muscle tissue. While there are many types of muscular dystrophy, this article will focus on Limb-Girdle Muscular Dystrophy (LGMD).
The severity, age of onset, and features of LGMD vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen over time, although in some cases, they remain mild. In the early stages, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and they may also have difficulty running. As the condition progresses, people with LGMD may eventually require wheelchair assistance.
LGMD is classified on the basis of its inheritance pattern and genetic cause. Limb-Girdle Muscular Dystrophy type 1 includes forms of the disorder that have an inheritance pattern called autosomal dominant. Limb-Girdle Muscular Dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive. Calpainopathy, or limb-girdle muscular dystrophy type 2A, is the most common form of LGMD, accounting for about 30% of cases and caused by mutations in the CAPN3 gene.
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Frequently asked questions
Muscle degeneration is the wasting or thinning of muscle mass. It can be caused by muscle disuse, malnutrition, age, genetics, lack of physical activity, or certain medical conditions.
Muscular dystrophy (MD) is a group of inherited diseases that cause progressive weakness and degeneration of skeletal muscles. It is caused by a genetic mutation that interferes with the production of proteins needed to form healthy muscles. MD affects both sexes and all ages, races, and ethnicities.
The symptoms of MD vary depending on the type, age of onset, severity, and the specific muscles affected. Common symptoms include progressive muscle weakness, trouble walking, trouble using arms, and shortening of muscles or tendons around joints. In some cases, MD can also affect the heart, lungs, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs.
