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MYOPATHY + CENTRAL NERVOUS SYSTEM (Encephalomyopathy)
Congenital Muscular Dystrophy
Fukuyama
Mental retardation & Cerebellar cysts
Merosin-Deficient
Muscle-Eye-Brain Disorders
Muscle hypertrophy & Mental retardation
CNS atrophy & Polyneuropathy
Dystrophy
Duchenne
FSH
: Largest deletions
McLeod Syndrome
Myotonic dystrophies
DM1
DM2
(PROMM)
Scapuloperoneal with retardation & cardiomyopathy
Other
Marinesco-Sjögren
IBMPFD
??
Camera-Marugo-Cohen Syndrome
Metabolic
Acid Maltase
: CNS Aneurysms
AGAT deficiency
Phosphoglycerate Kinase
Triosphosphate isomerase
Mitochondrial
MELAS
;
MERRF
;
MNGIE
Necrotizing myopathy
with Encephalopathy
with Pipestem capillaries
Thyroid
Encephalopathy with necrotizing myopathy
l
Autosomal recessive
Epidemiology: Turkish family, consanguineous
Clinical
Myopathy
Congenital
Hypotonia
Muscle fiber necrosis
CNS: Corpus callosum atrophy; White matter atrophy
Cardiomyopathy
Cataracts
Camera-Marugo-Cohen Syndrome
1
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
Return to
Myopathy & NMJ Index
References
1.
J Clin Neuromuscul Dis 2008;9:345-347
2.
Neurology 2010;75:186-188
7/22/2010