LGMD manual

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1.7. What is the progression of LGMD? In this regard, the Muscular Dystrophy Association 1 comments as follows: At this time, progression in each type of LGMD cannot be predicted with certainty, although knowing the underlying genetic mutation can be helpful. Some forms of the disorder 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. LGMD can begin in childhood, adolescence, young adulthood, or even later. Both genders are affected equally. When LGMD begins in childhood, some physicians say, the progression is usually faster and the disease more disabling. When the disorder begins in adolescence or adulthood, they say, it is generally not as severe and progresses more slowly. The course is usually one of slowly progressive, mostly symmetric weakness, with the exception of a few types with rapid progression or asymmetric weakness. 1.8. Subtypes of LGMD According to the Muscular Dystrophy Association 1 LGMD can be divided into subtypes. Type 1 LGMDs are dominantly inherited, requiring only one mutation for symptoms to result. Type 2 LGMDs are recessively inherited, requiring two mutations, one from each parent for symptoms to appear. Sometimes, LGMDs are referred to by their names, not their numbers, and some types have not been assigned numbers. The discovery of genetically distinct subtypes has redefined the classification of LGMD and has led to nomenclature designating the autosomal dominant forms as LGMD1A, 1B, 1C, etc., and the autosomal recessive forms as LGMD2A, 2B, 2C, etc.” Furthermore, Muscular Dystrophy UK 3 states: “The different types of LGMD may have different features associated with them *…+. However, the common features to all people in this group will be weakness of the big muscles of the legs and/or arms.” The table below lists the LGMD subtypes and specifies the autosomal dominant and autosomal recessive types. 4 Name Old name Name Old name LGMD D1 DNAJB6- related LGMD D2 TNP03- related LGMD D3 HNRNPDLrelated LGMD D4 calpain3- related LGMD D5 collagen6- related LGMD R1 calpain3- related AUTOSOMAL DOMINANT LGMD1D LGMD R12 anoctamin5- related LGMD1F LGMD R13 Fukutinrelated LGMD1G LGMD R14 POMT2- related LGMD1I LGMD R15 POMGnT1- related Bethlem LGMD R16 α- myopathy dominant dystroglycan-related AUTOSOMAL RECESSIVE LGMD2A LGMD R17 plectinrelated LGMD2L LGMD2M LGMD2N LGMD2O LGMD2P LGMD2Q 5
Name Old name Name Old name LGMD R2 dysferlinrelated related LGMD R18 TRAPPC11- LGMD2B LGMD2S LGMD R3 α- LGMD R19 GMPPBrelated LGMD2D sarcoglycan-related LGMD2T LGMD R4 β- sarcoglycan-related LGMD2E LGMD R20 ISPD-related LGMD2U LGMD R5 γ- LGMD R21 POGLUT1- LGMD2C sarcoglycan-related related LGMD2Z LGMD R6 δ- LGMD R22 collagen6- Bethlem myopathy LGMD2F sarcoglycan-related related recessive LGMD R7 telethoninrelated related muscular dystrophy LGMD R23 laminin α2- Laminin α2-related LGMD2G LGMD R8 TRIM 32- LGMD R24 POMGNT2- POMGNT2-related LGMD2H related related muscular dystrophy LGMD R9 FKRP-related LGMD2I LGMD R25 LGMD2X LGMD R10 titin-related LGMD2J LGMD R26 LGMD R11 POMT1- related LGMD2K LGMD R27 LGMD R(number pending) 2. Is there a treatment or cure? As explained by Muscular Dystrophy UK 3 : To date there is no specific treatment or cure for the muscle weakness that arises in LGMD. Promising research, however, has been developed over the last few years. Additionally there are supportive interventions which can help with managing symptoms and complications. *…+ Appropriate management of symptoms and complications is essential and may vary from type to type. Therefore knowing exactly which type of LGMD someone has helps to ensure that the affected person is receiving the best follow-up and care. Regular exercise to maintain good mobility is important for all patients affected by muscular dystrophy. There are no precise guidelines about the type or intensity of activities however it is recommended that any exercise undertaken is done within your limitations and ensuring you remain comfortable. Extreme tiredness, muscle pain and cramps during or after activities can mean that you have pushed yourself too hard and therefore those activities should be avoided. Swimming is a beneficial activity because it promotes movement of all muscles without increased strain. Physiotherapy may also be very important to keep you mobile and to keep your joints supple. In addition, NHS Inform 5 states that affected individuals should “Try to eat a healthy balanced diet and maintain a healthy weight. This will help to reduce stress on already weakened muscles”. 6
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Page 3 and 4: Contents 1. Learn about LGMD ......
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Page 15: 6. References 1. Muscular Dystrophy

LGMD manual

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