![]() (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. Of note, given the rarity of some of the genes associated with CMT some panels may not include all the genes in Table 4. (2) Some multigene panels may include genes not associated with CMT as defined in this GeneReview. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. Motor neuropathy, pes cavus, & proximal muscle weaknessĪ multigene panel that includes the eight most commonly involved genes (i.e., GDAP1, GJB1, HINT1, MFN2, MPZ, PMP22, SH3CT2, and SORD) as well as some or all of the other genes listed in Table 4 is most likely to identify the genetic cause of the neuropathy while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia Sphingosine Phosphate Lyase Insufficiency Syndrome Sensorimotor neuropathy, distal muscle atrophy UMN involvement can cause spastic paraplegiaīSCL2-Related Neurologic Disorders / Seipinopathyįorearm & hand atrophy as well as lower limbĭNMT1-Related Dementia, Deafness, and Sensory Neuropathy SH3TC2-Related Hereditary Motor and Sensory NeuropathyĪTP7A-Related Copper Transport Disorders, OMIM 300011 GDAP1-Related Hereditary Motor and Sensory Neuropathyįamily history may appear to be AD as females can be as severely affected as males CNS myelin may be affected. Zaspopathy (Markesbery-Griggs late-onset distal myopathy)Īmyotrophic lateral sclerosis 21 (Formerly MPD2)Īmyotrophic Lateral Sclerosis Overview, OMIM 606070ĭistal upper limbs (finger & wrist extensors) Mitochondrial Neurogastrointestinal Encephalopathy Disease Progressive gastrointestinal dysmotility cachexia ptosis/ophthalmoplegia or ophthalmoparesis leukoencephalopathy demyelinating peripheral neuropathy Sensorimotor & autonomic neuropathy cardiomyopathy nephropathy CNS amyloidosis Progressive spastic paraparesis, dysarthria, & pseudobulbar palsy distal amyotrophy motor & cognitive delays Recurrent sudden onset of shoulder or upper arm pain & weakness ± sensory loss later atrophy of the upper extremity Recurrent attacks of bilateral & symmetric intense pain, redness, warmth, & swelling involving feet & (less frequently) hands Hereditary Neuropathy with Liability to Pressure Palsies ![]() Hereditary neuropathy with liability to pressure palsiesĪcute onset of recurrent, painless, focal sensorimotor neuropathy in a single nerve Mitochondrial DNA-Associated Leigh Syndrome and NARPĪnosmia & early-onset retinitis pigmentosa ± neuropathy, deafness, ataxia, &/or ichthyosis Neurogenic muscle weakness, ataxia, & retinitis pigmentosa May present w/sensory loss, depressed tendon reflexes, & high-arched feet Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & cataract (PHARC) Supporters of such legislation say it reduces domestic violence, unwanted pregnancies and improves the lives of teens.Progressive stiffness & weakness of legs, sphincter disturbances, sexual dysfunction, & often, impaired adrenocortical function The group calls the practice a human rights abuse. Seven states have set the minimum age for marriage at 18, all since 2018, according to the advocacy group Unchained at Last, which has lobbied for legislation in variousstates to end child marriage. Young said she had to compromise with her Republican colleagues to secure a minimum age for marriage, and celebrated the aspect of the bill that prohibited large age gaps. Some Republicans in the GOP-dominated Legislature spoke about how they or their parents had married before adulthood and argued that state recognition of the relationships helps keep families together. Kayla Young of Kanawha County, had hoped to eliminate child marriage altogether. Some Democrats, including the bill's sponsor, Del. Similar bills to ban child marriage were proposed in recent years but didn’t get traction. Previously, anyone younger than 16 could have gotten married with a judge’s waiver.
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