Muscular Dystrophies:
Chromosomes have two arms, a short "p" and a long "q", in which genes are located.
LGMD1-Dominant
Type |
Information |
1A: |
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Onset: young adults |
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Progression: slow, late loss of ambulation |
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Gene location: Chromosome 5q31 |
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Gene product: Myotolin |
1B: |
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Onset: 4 to 38 years |
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Progression: slow |
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Gene location: Chromosome 1q11-q21 |
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Gene product: LaminA/C |
1C: |
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Onset: usually childhood |
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Progression: variable |
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Gene location: Chromosome 3p25 |
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Gene product: Caveolin |
1D: |
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Onset: early adulthood |
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Progression: slow |
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Gene location: Chromosome 7q |
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Gene product: unknown |
1E: |
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Onset: early adulthood |
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Progression: slow |
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Gene location: Chromosome 6q |
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Gene product: unknown |
LGMD2-Recessive
Type |
Information |
2A: |
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Onset: 3-30 years |
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Progression: the earlier the onset the more rapid the progression |
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Loss of walking in 20 years |
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Gene location: Chromosome 15q15-21 |
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Gene product: Calpain 3 |
2B: |
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Onset: Late teens |
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Progression: generally slow, some more rapid |
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Gene location: Chromosome 2p13 |
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Gene product: Dysferlin. Same gene responsible for the distal Miyoshi myopathy |
2C: |
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Also known as Severe Childhood Autosomal Recessive Muscular Dystrophy |
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Onset: variable, generally during first decade |
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Progression: very variable, even within families |
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Gene location: Chromosome 13q12-13 |
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Gene product: gamma-sarcoglycan |
2D: |
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Onset: most variable, generally during first decade |
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Progression: very variable |
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Gene location: Chromosome 17q12-21 |
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Gene product: alpha-sarcoglycan, formerly called adhalin |
2E: |
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Onset: variable, generally during first decade |
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Progressions: very variable, often in wheelchair by 10-15 years |
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Gene location: Chromosome 4q12 |
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Gene product: beta-sarcoglycan |
2F: |
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Onset: variable, generally during first decade |
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Progression: variable |
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Gene location: Chromosome 5q33-34 |
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Gene product: delta-sarcoglycan |
2G: |
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Onset: childhood |
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Progression: moderate |
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Gene location: Chromosome 17q11-12 |
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Gene product: telethonin |
2H: |
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Onset: 8-27 years so far reported |
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Progression: slow |
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Chromosome 9p31-33 |
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Gene product: unknown |
2I: |
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Onset: not known |
|
Progression: not confirmed |
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Gene Location: Chromosome 19q13 |
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Gene Product: not known |
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