Myopathy + CNS

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MYOPATHY + CENTRAL NERVOUS SYSTEM (Encephalomyopathy)

Congenital Muscular Dystrophy
Dystrophy
- Duchenne
- FSH: Largest deletions
- McLeod Syndrome
- Myotonic dystrophies
  - DM1
  - DM2 (PROMM)
- Scapuloperoneal with retardation & cardiomyopathy
Other

Metabolic
- Acid Maltase: CNS Aneurysms
- Phosphoglycerate Kinase
- Triosphosphate isomerase
Mitochondrial
- MELAS; MERRF; MNGIE
Necrotizing myopathy
- with Encephalopathy
- with Pipestem capillaries
Thyroid

Encephalopathy with necrotizing myopathy

l Autosomal recessive

Congenital myopathy
Corpus callosum atrophy
Cardiomyopathy
Cataracts

Camera-Marugo-Cohen Syndrome

Sporadic syndrome
Muscle weakness: Proximal & Legs > Arms 50%; Congential hypotonia 50%
CNS: Mental deficiency
Skeletal: Short stature; Body asymmetry
Face: Cleft lip-palate; Retrognathia; Blepharoptosis
Genital: Hypogonadism; Micropenis
Contractures: Fingers
Obesity: Post-natal

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9/13/2006