Female carriers of DMD mutations do not usually have symptoms. Symptoms vary, but may include muscle pain and cramps with physical exertion, severe muscle weakness and dilatation of the heart. Female relatives of children with DMD should have their carrier status tested.
Abstract. Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent.
What is a Carrier? A carrier is a person who “carries” a genetic mutation in any of their genes that could be passed on to their children. Because the mutation for Duchenne is found on the X chromosome, only females can be carriers for the mutation on the gene that encodes for dystrophin protein.
In most cases, muscular dystrophy (MD) runs in families. It usually develops after inheriting a faulty gene from one or both parents. MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function.
Myotonic muscular dystrophy is the most common form of muscular dystrophy diagnosed in adults. It affects men and women equally.
Most patients with Becker muscular dystrophy live into adulthood. With appropriate management of heart problems, they can expect to live a normal lifespan.
Signs and symptoms of DMD mutations
Female carriers with DMD mutations usually show no symptoms of the condition. However, some experience muscle pain and cramps with physical exertion, or muscle weakness in the limbs. Symptoms, if they occur, may happen at any time in life.
Speak to your GP, who can refer you for genetic screening and counselling. Genetic testing can be used to: identify the cause of muscle problems (to make a diagnosis) identify carriers of the condition (people who don't have MD but have the potential to pass it on to their children)
Carrier testing is done on a blood or saliva sample. There are different lab methods that can be used for carrier testing. The method for carrier testing should be determined by the woman's family situation, including whether the mutation in the family is known and her family history.
Skeletal muscles. Most carrier females (about 80-90%) have no problems with their skeletal muscles. Some have mild muscle weakness, fatigue (a tired feeling), pain or cramping in their muscles. Rarely, a carrier has symptoms that are as severe as those of a male with muscular dystrophy.
Duchenne muscular dystrophy is inherited in an X-linked recessive pattern. Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy.
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disease. This fatal disease affects approximately 1:3,500 to 6,000 live male births [1] and 1:50,000,000 live female births [2], [3].
Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include a delay in walking, difficulty rising from a sitting or lying position, and frequent falling, with weakness typically affecting the shoulder and pelvic muscle as one of the initial symptoms.
What causes muscular dystrophy (MD)? Most cases of MD are caused by gene mutations (changes in the DNA sequence) that affect muscle proteins. The mutations are usually inherited, but in some cases they occur spontaneously. These spontaneous mutations can then be inherited by an affected person's offspring.
Although MD can affect several body tissues and organs, it most prominently affects the integrity of muscle fibers. The disease causes: Muscle degeneration. Progressive weakness.
Muscular dystrophy is a group of diseases that make muscles weaker and less flexible over time. It is caused by a problem in the genes that control how the body keeps muscles healthy. For some people, the disease starts early in childhood. Others don't have any symptoms until they are teenagers or middle-aged adults.
A female who inherits one affected X chromosome becomes a “carrier” of hemophilia. She can pass the affected gene on to her children. In addition, a female who is a carrier sometimes can have symptoms of hemophilia. In fact, some doctors describe these women as having mild hemophilia.
The diseases most frequently mistaken for muscular dystrophy were polymyositis and the syndrome of "benign hypotonia." Polymyositis, with its protean manifestations and variable course, may mimic all of the forms of muscular dystrophy so closely that differentiation becomes especially difficult.
Limb-girdle muscular dystrophy
Symptoms of limb-girdle MD usually begin in late childhood or early adulthood, although the condition can affect people younger or older than this, depending on the specific type. Males and females are equally affected.
DMD symptoms usually begin before 5 years of age. In BMD, symptoms usually appear later, even into adulthood.
The following findings are red flags that indicate the need for an urgent referral to a neurologist: Tongue fasciculations. Loss of motor milestones. Creatine phosphokinase (CK) level higher than three times normal (however, children with some neuromuscular disorders have normal CK levels)
Some types of muscular dystrophy affect children while others don't appear until adulthood. The most common type, called Duchenne muscular dystrophy, usually begins between ages 2 to 5; symptoms progress quickly.
The average lifespan for Duchenne muscular dystrophy is 18 to 25 years. With early treatment, it can reach 30 years. But recent technological advances have made it possible to improve treatment. As a result, people living with the disease live better and longer.
A good practice is to avoid processed foods, such as white bread, sugar, and pasta. Sugar-sweetened beverages, like carbonated drinks, coffee, and alcohol, are also not advised. In some instances, nutritional supplements may be required to fulfill the patient's daily nutrient needs.