Myopathy + CNS

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MYOPATHY + CENTRAL NERVOUS SYSTEM (Encephalomyopathy)

Encephalopathy with necrotizing myopathy

l Autosomal recessive

Camera-Marugo-Cohen Syndrome

Epidemiology: Sporadic
Clinical
- Motor
  - Weakness: Proximal & Distal; Legs > Arms 50%
  - Congential hypotonia 50%
- Tendon reflexes: Reduced
- CNS: Mental deficiency
- Skeletal
  - Short stature
  - Body asymmetry
  - Fingers: Contractures; Syndactyly
- Face: Cleft lip-palate; Retrognathia; Blepharoptosis
- Genital: Hypogonadism; Micropenis
- Obesity: Post-natal
Laboratory
- EMG: Denervation & Reinnervation
- Muscle biopsy: Grouped atrophy; Fiber type grouping

Arginine:Glycine Amidinotransferase (AGAT) Deficiency

²
l L-arginine:glycine amidinotransferase (GATM; AGAT)

; Chromosome 15q15.3; Recessive

Genetics
- Mutation in adult patients: R169X; Nonsense
AGAT protein
- Location: Mitochondrial intermembrane space
- Converts L-arginine and L-glycine to L-ornithine and guanidinoacetate
- Creatine synthesis: 1st step
Clinical
- CNS
  - Developmental delay
  - Mental retardation
  - Speech: Poor executive & comprehensive
- Weakness: Proximal
- Treatment: Creatine, 5g/d
Laboratory
- Muscle biopsy: Fiber size variation & atrophy
- Plasma & Urine guanidinoacetate: Absent