Case Studies
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Infant: Hyper-flexibility and delayed development (Autosomal dominant Ullrich congenital muscular dystrophy, UCMD)
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6-month-old: Delayed early motor development (Duchenne muscular dystrophy)
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9-month-old: Delayed sitting (Charcot-Marie-Tooth disease type 1A)
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14-month-old: Non-weight bearing (Spinal muscular atrophy, type II)
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18-month-old: Language and walking delay (Duchenne muscular dystrophy)
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20-month-old: Delayed language and motor development (Early injury to the brain)
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4-year-old: Elevated transaminases (Limb girdle muscular dystrophy type 1B, LGMD1B)
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5-year-old: Inability to keep up with peers (Limb girdle muscular dystrophy type 2I, LGMD2I)
- 8-year-old: Trouble breathing and loss of motor skills (Early-onset thymidine kinase 2 deficiency, TK2D)