Hello
good people, today I want to introduce you to another for of muscular
dystrophy. This type is so diverse in that it has very many other
sub-types and manifests in different ways in all those affected. The
rate of progression and the severity also greatly varies.
No one person with Limb Girdle Muscular dystrophy is exactly the same as the next.
WHAT IS LIMB GIRDLE MUSCULAR DYSTROPHY?
Limb girdle muscular dystrophy (LGMD) is the common name for a diverse group of muscular dystrophies affecting mainly the pelvic (hip) and shoulder regions. There are more than 20 different subtypes - each caused by alterations to different genes. The different types of LGMD vary in severity, age of onset (when symptoms are first noticed) and how they are inherited. Some types progress to loss of walking ability within a few years and cause serious disability, while others progress very slowly over many years and cause minimal disability.
What are the symptoms of Limb Girdle Muscular Dystrophy?
People with LGMD experience weakness in the muscles in the top part of the arms, shoulders, hips and thighs. The weakness usually affects the legs first followed by the arms. Symptoms that might be noticed first include frequent falls and difficulty climbing stairs, running and rising from the floor.
Weak shoulder muscles can make it difficult to raise arms above the head, hold the arms outstretched, or carry heavy objects. Some types of LGMD may also cause weakness in the feet, ankles, calves, hands and wrists. A few specific types of LGMD may cause heart problems or weakness of the breathing muscles. Usually the muscles of the face are unaffected and the brain, intellect, and the senses are not impaired.
As the condition progresses, people with LGMD may start to have problems with walking and may need to use a wheelchair over time. LGMD is generally thought of as a condition that affects adults but some types do appear in young children. Severity can range from severely disabling with a wheelchair required in the teens to people who are still able to walk in their 50s and beyond.
It is difficult to give generalised information on how the condition will progress because LGMDs all progress at different rates, even within the same family. In addition, each different type has some specific features and characteristics, such as age of onset of symptoms and particular muscles involved.
How is this type passed on?
The inheritance of one altered copy of the gene from either parent is sufficient for a person to be affected by type 1 LGMDs which are called “autosomal dominant” disorders. The single altered gene is sufficient to over-ride the normal functioning copy inherited from the other parent. Each affected person usually has one affected parent. The chance of a child inheriting the condition from a parent with the condition is 50 percent, or 1 in 2.
How is LGMD diagnosed?
Diagnosing LGMDs starts with the medical history and clinical signs observed by the doctor. Family history is also used to identify the pattern of inheritance. Further testing is then done which may include:
• a muscle enzyme blood test (creatine kinase)
• electrical tests (EMG) on the muscle
• MRI (Magnetic Resonance Imaging) scans may be used to identify muscles for biopsy and show the clinician the pattern of muscle involvement
• a muscle biopsy (taking a small sample of an affected muscle)
• genetic tests on DNA obtained from a blood sample
How is LGMD managed?
Gentle exercise is recommended to help maintain the muscle strength that remains as well as having positive effects on general health and wellbeing.
There are no precise guidelines about the type or intensity of activities; however, it is recommended that any exercise undertaken is within comfortable limits.
Extreme tiredness, muscle pain and cramps during or after activities can mean that you have pushed yourself too hard and therefore you should take it easier.
Swimming is beneficial because all of the muscles of the body are used and the support of the water prevents undue strain.
Long periods of immobility, for example after surgery or during illness, should be avoided.
No one person with Limb Girdle Muscular dystrophy is exactly the same as the next.
WHAT IS LIMB GIRDLE MUSCULAR DYSTROPHY?
Limb girdle muscular dystrophy (LGMD) is the common name for a diverse group of muscular dystrophies affecting mainly the pelvic (hip) and shoulder regions. There are more than 20 different subtypes - each caused by alterations to different genes. The different types of LGMD vary in severity, age of onset (when symptoms are first noticed) and how they are inherited. Some types progress to loss of walking ability within a few years and cause serious disability, while others progress very slowly over many years and cause minimal disability.
What are the symptoms of Limb Girdle Muscular Dystrophy?
People with LGMD experience weakness in the muscles in the top part of the arms, shoulders, hips and thighs. The weakness usually affects the legs first followed by the arms. Symptoms that might be noticed first include frequent falls and difficulty climbing stairs, running and rising from the floor.
Weak shoulder muscles can make it difficult to raise arms above the head, hold the arms outstretched, or carry heavy objects. Some types of LGMD may also cause weakness in the feet, ankles, calves, hands and wrists. A few specific types of LGMD may cause heart problems or weakness of the breathing muscles. Usually the muscles of the face are unaffected and the brain, intellect, and the senses are not impaired.
As the condition progresses, people with LGMD may start to have problems with walking and may need to use a wheelchair over time. LGMD is generally thought of as a condition that affects adults but some types do appear in young children. Severity can range from severely disabling with a wheelchair required in the teens to people who are still able to walk in their 50s and beyond.
It is difficult to give generalised information on how the condition will progress because LGMDs all progress at different rates, even within the same family. In addition, each different type has some specific features and characteristics, such as age of onset of symptoms and particular muscles involved.
How is this type passed on?
The inheritance of one altered copy of the gene from either parent is sufficient for a person to be affected by type 1 LGMDs which are called “autosomal dominant” disorders. The single altered gene is sufficient to over-ride the normal functioning copy inherited from the other parent. Each affected person usually has one affected parent. The chance of a child inheriting the condition from a parent with the condition is 50 percent, or 1 in 2.
How is LGMD diagnosed?
Diagnosing LGMDs starts with the medical history and clinical signs observed by the doctor. Family history is also used to identify the pattern of inheritance. Further testing is then done which may include:
• a muscle enzyme blood test (creatine kinase)
• electrical tests (EMG) on the muscle
• MRI (Magnetic Resonance Imaging) scans may be used to identify muscles for biopsy and show the clinician the pattern of muscle involvement
• a muscle biopsy (taking a small sample of an affected muscle)
• genetic tests on DNA obtained from a blood sample
How is LGMD managed?
Gentle exercise is recommended to help maintain the muscle strength that remains as well as having positive effects on general health and wellbeing.
There are no precise guidelines about the type or intensity of activities; however, it is recommended that any exercise undertaken is within comfortable limits.
Extreme tiredness, muscle pain and cramps during or after activities can mean that you have pushed yourself too hard and therefore you should take it easier.
Swimming is beneficial because all of the muscles of the body are used and the support of the water prevents undue strain.
Long periods of immobility, for example after surgery or during illness, should be avoided.
Comments
Post a Comment