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Muscular Dystrophy - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 09 June 2022

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Rigid spine muscular dystrophy

"Rigid spine muscular dystrophy is a product of congenital muscular dystrophy. " Muscle weakness is often present at birth or within the first few months of life in RSMD. As time, muscles surrounding the spine and the joints of the spine's spine will strengthen, and spine joints will develop deformities that restrict mobility. Muscles in the inner thighs also atrophied in some people with RSMD, although it does not diminish the ability to walk. The abdomen is divided from the chest cavity, and breathing difficulties are typical of RSMD. The combination of characteristics of RSMD, including axial muscle weakness, spine rigidity, and respiratory insufficiency, has been referred to as rigid spine syndrome. The characteristic of rigid spine syndrome in people with RSMD are more apparent at a younger age than in those with other muscle disorders.

Source link: https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy


Facioscapulohumeral muscular dystrophy

"Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle cramp and wasting. " It is common to find signs and symptoms of facioscapulohumeral muscular dystrophy in adolescents. When smiling, facial muscle weakness makes it impossible to drink from a straw, whistle, or turn up the corners of the mouth. Eye muscle weakness can prevent the eyes from closing completely while a person is asleep, causing dry eyes and other eye problems. Weak shoulder muscles tend to make the shoulder blades protrude from the back, a common sign of scapular winging. Weakness in the shoulders and upper arms muscles can make it impossible to lift the arms over the head or throw a ball. Muscle weakness related to facioscapulohumeral muscular dystrophy has progressively increased over the past decade and may extend to other areas of the body. Weakness in the muscles of the lower legs can lead to a condition called foot drop, which affects walking and raises the risk of falls. In addition, impaired abdominal muscles, aging people may have an exaggerated curvature of the lower back. Mild high-tone hearing loss and abnormalities in the back of the eye involving the light-sensitive tissue at the back of the eye are both typical signs and symptoms of facioscapulohumeral muscular dystrophy. Muscle dystrophy is a rare condition that contributes to breathing heart muscle or muscles. "Bottrophy of facioscapulohumeral muscular dystrophy: type 1 and type 2. ".

Source link: https://medlineplus.gov/genetics/condition/facioscapulohumeral-muscular-dystrophy


Oculopharyngeal muscular dystrophy

"Oculopharyngeal muscular dystrophy is a genetic disorder that manifests muscle atrophy in adulthood, usually after age 40. " Both eyelids suffer muscle weakness that leads to droopy eyelids in both eyelids. Ptosis can progress over time, causing the eyelid to blur vision and limiting eye movement in some instances. Dysphagia starts with dry food, but liquids will become difficult to swallow as time goes. Dysphagia can cause saliva to accumulate and a tumbling voice, as well as a stout-sounding voice. Many people with oculopharyngeal muscular dystrophy also suffer from hunger and tongue wasting. Individuals with oculopharyngeal muscular dystrophy have weakness in the muscles near the center of the body, particularly muscles in the shoulders, upper legs, and hips. People with a severe oculopharyngeal muscular dystrophy (muscular dystrophy that begins before age 45) and have a difficult time walking without a wheelchair by age 60.

Source link: https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy


LMNA-related congenital muscular dystrophy

"LMNA-related congenital muscular dystrophy is the most common disorder that mainly affects muscles used for mobility. " It is one of a group of genetic disorders called congenital muscular dystrophies, which cause poor muscle tone and muscle wasting beginning very early in life. Muscle weakness becomes apparent in infant or early childhood, and can escalate quickly. Less frequently affected children can learn to sit, stand, and walk before muscle weakness becomes apparent. These children will eventually lose the ability to sit, stand, and walk unassisted as other skeletal muscles become weaker. People with L-CMD also have an elevated risk of heart rhythm abnormalities. Infants and children with L-CMD have trouble eating and breathing over time, due to muscle deficiency. The breathing difficulties resulted from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened and the ribcage becomes more rigid. ".

Source link: https://medlineplus.gov/genetics/condition/lmna-related-congenital-muscular-dystrophy


Duchenne and Becker muscular dystrophy

"Muscular dystrophies are a group of genetic disorders characterized by progressive muscle loss and wasting. " Becker muscular dystrophy's signs and symptoms are usually milder and more complex. Later, the heart muscle fibers become larger, and heart problems develop into a condition called dilated cardiomyopathy. Males with Duchenne muscular dystrophy usually live into their twenties, while males with Becker muscular dystrophy can live into their forties or beyond. X-linked dilated cardiomyopathy is a form of heart disease caused by mutations in the same gene as Duchenne and Becker muscular dystrophy, and it is sometimes described as subordinate Becker muscular dystrophy. People with X-linked dilated cardiomyopathy have no skeletal muscle loss or wasting, though they may have subtle changes in their skeletal muscle cells that are not detectable by laboratory analysis.

Source link: https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy


LAMA2-related muscular dystrophy

"It is often described as part of a class of muscle disorders called congenital muscular dystrophies and is also known as congenital muscular dystrophies type 1A. " Affected infants may have severe muscle weakness, muscle tone, lack of muscle tone, limited spontaneous movement, and joint deformities. Children with early-onset LAMA2 -related muscular dystrophy often do not have the ability to walk. About a third of people with early-onset LAMA2-related muscular dystrophy (DOM)-related muscular dystrophy have seizures; in this case, heart problems are rare; especially in this form of the disease. Symptoms of late-onset LAMA2-related muscular dystrophy appear in childhood or adulthood, and they are similar to those of a group of muscle disorders classified as leg-girdle muscular dystrophies. Children with late-onset LAMA2 -related muscular dystrophy may have a delay in motor skills such as walking, but most children with late-onset muscular dystrophy have the ability to walk without assistance.

Source link: https://medlineplus.gov/genetics/condition/lama2-related-muscular-dystrophy


Fukuyama congenital muscular dystrophy

"Congenital muscular dystrophies are a group of genetic disorders that result in muscle loss and wasting that begin early in life. " The skeletal muscles, which are muscles the body uses for mobility, are affected by Fukuyama congenital muscular dystrophy. Fukuyama's congenital muscular dystrophy also hinders brain development. Most children with Fukuyama congenital muscular dystrophy are unable to walk or walk, though some may sit without assistance and slide across the floor in a seated position. Impaired vision, other eye abnormalities, and slowly progressing heart disease following age 10. As the disease progresses, patients may experience swallowing difficulties that may lead to a bacterial lung disease called aspiration pneumonia. Most people with the condition live only into late childhood or adolescence because of the serious medical issues associated with Fukuyama congenital muscular dystrophy.

Source link: https://medlineplus.gov/genetics/condition/fukuyama-congenital-muscular-dystrophy


Limb-girdle muscular dystrophy

"Limb-girdle muscular dystrophy is a term used to describe a group of disorders that lead to muscle loss and muscle wasting in the arms and legs. " Individuals affected by limb-girdle muscular dystrophy may have unusual walking gait, such as waddling or walking on the balls of their feet, and may also have trouble running. People with limb-girdle muscular dystrophy may eventually need wheelchair assistance as the disease progresses. Muscle wasting can lead to changes in posture or the appearance of the shoulder, back, or arm. Overgrowth of the calf muscles is common in those people with limb-girdle muscular dystrophy. Weakening of the heart muscle can occur in various aspects of limb-girdle muscular dystrophy. In some cases, the respiratory difficulties are so severe that they necessitated individuals to use a machine to assist them in breathing. ".

Source link: https://medlineplus.gov/genetics/condition/limb-girdle-muscular-dystrophy


Tibial muscular dystrophy

"Tibial muscular dystrophy is a disorder that affects the muscles at the front of the lower leg," says the author. The first sign, usually exhaustion and muscle loss of a muscle in the lower leg, called the tibialis anterior, is shown. Muscle weakness persists very slowly in people with tibial muscular dystrophy. After the onset of symptoms, a muscle swollen can develop in muscles that extend the toes. Around one third of people with tibial muscular dystrophy have moderate to moderate difficulty walking due to a lack of leg muscles in other leg muscles later in life. A small minority of people with tibial muscular dystrophy have a somewhat different pattern of signs and symptoms than those listed above. These people may have generalized muscle weakness, hunger, and atrophy of the thigh muscles or other muscles in the legs, as well as arm muscle weakness, which can also affect arm muscles.

Source link: https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy


Emery-Dreifuss muscular dystrophy

"Emery-Dreifuss muscular dystrophy is mainly affecting muscles used for movement and the heart. " Joint deformities termed contractures are among the first signs of this disorder. Most affected individuals also suffer from muscle deterioration and wasting that has worsened gradually over time, beginning in muscle weakness and leg muscles and then spreading to muscles in the shoulders and hips. Almost all people with Emery-Dreifuss muscular dystrophy have heart disease by adulthood. In several instances, these heart conditions are due to abnormalities of the electrical signals that regulate the heartbeat and abnormal heart rhythms. Researchers have discovered multiple types of Emery-Dreifuss muscular dystrophy that are identifiable by their line of descent: X-linked, autosomal dominant, and autosomal recessive. The types of people with the autosomal dominant form have similar signs and symptoms, but a small number of people with the autosomal dominant form have heart problems, but not a lack of skeletal muscles. ".

Source link: https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions