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suspected neuromuscular disorder - Coggle Diagram
suspected neuromuscular disorder
laboratory studies
creatinine kinase CK <240 U/l
gross elevation
dystrophinopathy Duchenne >10000 U/l (100000 U/ll)
congenital muscular atrophy: merosinopathy, dystroglycanopathy
no/mild elevation
facioscapular muscular dystrophy
Ullrich muscular dystrophy
SEPN1-related myopathy
congenital myopathies
nonmuscle diseases: spinal muscularatrophy 1000 U/l
alanine aminotransferase ALT
aspartate aminotransferase AST
lactate dehydrogenase
aldolase
metabolic muscle disorders
serum lavtate/pyruvate
serum carnitine panel
serum acylcarnitine panel
urine acylglycine panel
inflammatory myopathies: Jo-1
myasthenia gravis
acetylcholine receptor antibody
muscle-specific kinase (MuSK)
antibody
antistriated muscle or antititin antibody
inflammatory neuropathies: antiganglioside
antibodies
GQ1b antibodies Miller-Fisher
anti-GM1 chronic inflammatory demyelinating polyradiculopathy CIDP
CSF: Guillan-Barré, CIDP - cytoalbuminologic dissociation
nerve conduction and electromyography
anterior horn cell diseases
neuropathies
neuromuscular junction
myopathies
imaging
muscle ultrasound
muscle disease: increased echogenicity with scarce or no visualization of the underlying bone structure
SMA: denervation pattern characterized by an increased ratio between subcutaneous tissue and the muscle belly and often a granular pattern in the muscle
muscle MRI: disease-specific patterns myotonic dystrophy, Emery-Dreifuss muscular dystrophy, Ullrich congenital muscular dystrophy, facioscapulohumeral muscular dystrophy, Miyoshi myopathy, Becker and limb-girdle muscular dystrophies
nerve ultrasound and MR neurography: CIDP, nerve entrapment
cranial MRI
Merosin-deficient congenital muscular dystrophy diffuse, symmetric white-matter lesions on MRI
Classic dystroglycanopathies: cerebellar structural abnormalities - hypoplasia, cysts, pachygyria, polymicrogyria, hypoplasia of the corpus callosum - Fukuyama, muscle-eye-brain disease
severe cortical malformations, lissencephaly Walker-Warburg sy
genetic testing
next generation sequencing
limb-girdle muscular dystrophy
congenital muscular dystrophy
congenital myopathy
Charcot-Marie Tooth 1A: PMP22 gene duplication
Duchenne, Becker musclular dystrophy DMP gene deletion
facioscapulohumeral muscular dystrophy 1 D4Z4 macrosatellite region on 4q35
myotonic dystrophy 1 trinucleotide repeate expansions in DMPK
myotonic dystrophy 2 quadruplet repeat expansion in ZNF9
electrical impedance myography
references: Swaiman's Pediatric Neurology 2017