LGMD manual

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1. Learn about LGMD 1.1. What is LGMD? The Muscular Dystrophy Association 1 describes limb girdle muscular dystrophy (LGMD) as follows: Limb-girdle muscular dystrophy (LGMD) is a diverse group of disorders with many subtypes categorized by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders. (The proximal muscles are those closest to the center of the body; distal muscles are farther away from the center — for example, in the hands and feet). The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle is the bony structure surrounding the hips. Collectively, these are called the limb girdles, and it is the observed weakness and atrophy (wasting) of the muscles connected to the limb girdles that has given this group of disorders its name. Medline Plus 2 explains further: The severity, age of onset, and features of limb-girdle muscle dystrophy 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 with time, although in some cases they remain mild. 1.2. How common is LGMD? The Muscular Dystrophy Association 1 notes: “Together, the group of disorders that constitute LGMD is the fourth most common genetic cause of muscle weakness with an estimated prevalence in about 2 in every 100,000 individuals.” 1.3. What are the symptoms of LGMD? The main symptoms of LGMD are described as follows by the Muscular Dystrophy Association 1 : The unifying features of the LGMDs are the weakness and atrophy of the limb-girdle muscles. However, the age at which symptoms appear, and the speed and severity of disease progression, can vary. Individuals may first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat, or climbing stairs. As this weakness progresses, the person may require the use of assistive mobility devices. Weakness in the shoulder area may make reaching over the head, holding the arms outstretched, or carrying heavy objects difficult. It may become increasingly hard to keep the arms above the head for such activities as combing one’s hair or arranging things on a high shelf. Some people find it harder to type on a computer or other keyboard and may even have trouble feeding themselves. The Muscular Dystrophy Association 1 adds that some of the LGMD subtypes are characterised by additional symptoms. The subtypes are dealt with in section 1.8 of this manual. 1
Medline Plus 2 continues: Figure1: LGMD manifestation 1 Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy. Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation). Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder. 1.4. What causes LGMD? The Muscular Dystrophy Association 1 states the following about the causes of LGMD: Genes are the codes, or recipes, that cells use to manufacture the various proteins needed by the body. The genes associated with LGMD normally encode proteins that play vital roles in muscle function, regulation, and repair. When one of these genes contains a mutation (a flaw, such as missing or incorrect information), cells cannot produce the proteins needed for healthy muscles. There are two major groups of LGMDs. Called LGMD1 and LGMD2, these two groups are classified by the respective inheritance patterns: autosomal dominant and autosomal recessive. If one copy of the abnormal gene is sufficient to cause the disease, it is said to be autosomal dominant; if two copies are needed, then the inheritance pattern is autosomal recessive. In some families, the inheritance pattern cannot be determined. 2
Page 1 and 2: This guide aims to provide informat
Page 3: Contents 1. Learn about LGMD ......
Page 7 and 8: Figure 3: Autosomal dominant patter
Page 9 and 10: Name Old name Name Old name LGMD R2
Page 11 and 12: The goal of physiotherapy is to pre
Page 13 and 14: Do no rush a meal, allowing time to
Page 15: 6. References 1. Muscular Dystrophy

LGMD manual

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