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BIOCHEMICAL TESTING FOR INBORN ERRORS OF METABOLISM
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There are a seemingly endless number of uncommon inherited metabolic diseases, many of which may have neuromuscular components Peripheral nerve axons and
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TESTING IN NEUROMUSCULAR DISEASE
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TABLE 2 5 COMMERCIALLY AVAILABLE DNA ANALYSES FOR NEUROMUSCULAR DISEASE AS OF 8/07 (BLOOD)
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Disease Category Motor neuron disease
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Type fALS SMA I-IV X-linked spinobulbar muscular atrophy Duchenne/Beckers Limb girdle 2A Limb girdle 2B Limb girdle 2C Limb girdle 2D Limb girdle 2E Limb girdle 2F Limb girdle 2I Limb girdle 1B Limb girdle 1C Myotonic DM1 Myotonic DM2 FSH Oculopharyngeal Emery Dreifuss
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Gene Location AD21q AR5q X11q X21p AR15q AR2p AR13q AR17q AR4q AR5q AR15q AD1q AD3p AD19 AD3 AD4q35 AD14q X28q AD1q AD7q AD17q AD17q AR1q AD17q AR11q AR17q AR11q AR1p Maternal mtDNA Maternal mtDNA
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Gene Product Superoxide dismutase 1 Survival motor neuron gene 1 Androgen receptor gene Dystrophin Calpain 3 Dysferlin gamma Sarcoglycan alpha Sarcoglycan beta Sarcoglycan delta Sarcoglycan Fukutin-related protein Lamin-A/C Caveolin 3 Dystrophica myotonia protein kinase Zinc nger protein 9 Unknown Polyadenylate-binding protein nuclear 2 Emerin Lamin-A/C Chloride channel protein CLCN1 Sodium channel protein type 4 subunit alpha Sodium channel protein type 4 subunit alpha Voltage-dependent L-type calcium channel subunit alpha-1S Sodium channel protein type 4 subunit alpha Myophosphorylase Acid alpha 1-4 glucosidase Carnitine palmitoyltransferase I Carnitine palmitoyltransferase 2
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Muscular dystrophy
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Channelopathies
Myotonia congenita Paramyotonia congenita Hyperkalemic periodic paralysis Hypokalemic periodic paralysis 1 Hypokalemic periodic paralysis 2 McArdle s Pompe s Carnitine palmitoyltransferase de ciency IA Carnitine palmitoyltransferase de ciency II Kearns Sayre syndrome Progressive external ophthalmoplegia
Glycogen storage myopathy Lipid storage myopathy
Mitochondrial myopathies
MERFF MELAS
Maternal mtDNA Maternal mtDNA
SLC25A4, encoding ANT1 PEO1, encoding twinkle POLG1, encoding the catalytic subunit of mtDNA polymerase Mitochondrial tRNA lysine NADH-ubiquinone oxidoreductase chain 5 or Mitochondrial tRNA leucine 1 Thymidine phosphorylase
(continued )
MNGIE
AR ECGF1
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SECTION I
APPROACH TO PATIENTS WITH NEUROMUSCULAR DISEASE
TABLE 2 5 (CONTINUED) COMMERCIALLY AVAILABLE DNA ANALYSES FOR NEUROMUSCULAR DISEASE AS OF 8/07 (BLOOD)
Disease Category Neuropathy
Type CMT type 1A CMT type 1B CMT type 1C CMT type 1D CMT type 1E CMT type 1F CMT type 2E/1F CMT type 2I CMT type 2J CMT type 2K
Gene Location AD17p AD1q AD16p AD10q AD17p AD8p AD8p AD1q AD1q AD8q
Gene Product Peripheral myelin protein 22 (duplication) Myelin protein 0 Lipopolysaccharide-tumor necrosis factor-alpha factor Early growth response protein 2 Peripheral myelin protein 22 Neuro lament triplet L protein Neuro lament triplet L protein Myelin protein 0 Myelin protein 0 Ganglioside-induced differentiation-associated protein-1 SH3 domain and tetratricopeptide repeats containing protein 2 Periaxin Connexin 32 Peripheral myelin protein 22 (deletion) Transthyretin MT ATP6
CMT type 4C CMT type 4F X-linked HNPP Familial amyloid polyneuropathy Mitochondrial neuropathy
AR5q AR19q Xq AD17p AD18q
Neuropathy, ataxia, and retinitis pigmentosa
Mitochondrial nucleotide 8993
fALS, familial amyotrophic lateral sclerosis; SMA, spinal muscular atrophy; FSH, facioscapulohumeral; MERRF, myoclonic epilepsy and ragged red bers; MELAS, mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes; CMT, Charcot Marie Tooth; HNPP, hereditary liability to pressure palsy; SPG, spastic paraplegia gene; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy for contemporary listing of available gene test, refer to wwwgenetestsorg
their surrounding myelin sheaths appear to be particularly vulnerable to an unfriendly metabolic mileux This is presumably due to their con guration and the complex metabolic requirements necessary to maintain the health of a structure that may exceed 1 m in length73 Although these are inherited disorders for which DNA mutational analysis may be applied, diagnostic con rmation is currently most expeditiously achieved by biochemical or at times by pathological means In many cases, reduced levels of the gene product are sought, eg, reduced alpha-galactosidase levels in Fabry s disease In other cases, elevated levels of a substance resulting from the synthetic or degradation road block created by the de cient gene product may be the means by which the diagnosis is achieved Phytanic acid buildup due to phytanic acid oxidase de ciency in Refsum s disease is an example of the latter phenomenon The major inherited disorders that may associate with peripheral neuropathy and the most common means to achieve diagnostic con rmation are summarized in Table 2 6 DNA mutational analysis for many of these disorders are available only through research laboratories Again, wwwgenetestsorg is a valuable resource in this regard
Biochemical testing to con rm the diagnosis of an inherited neuromuscular disorder is not con ned to the realm of peripheral neuropathy Western blot for dysferlin may be performed on peripheral monocytes for evaluation of LGMD2B or Miyoshi myopathy Dried blood spot analysis for alpha-glucosidase activity is an outstanding screening test for Pompe disease (acid maltase de ciency) Some advocate that this test should be done routinely on all newborns, as there is now enzyme replacement therapy available for this lethal disease The test should be considered for all children and adults with prominent respiratory failure or limb-girdle pattern of weakness
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