Pub Date : 2023-02-07DOI: 10.17161/rrnmf.v3i4.18396
Salman F Bhai, A. Lizarraga, Morgan McCreary, S. Kolkin, J. Kissel, R. Barohn
In myotonic dystrophy type 1 (DM1) quadriceps weakness often results in severe functional limitations and genu recurvatum. To improve quadriceps strength the effects of isometric tetanic contractions using transcutaneous muscle stimulation (TMS) and testosterone enanthate (TE) were assessed. Ten DM1 subjects underwent unilateral TMS 6 hours per day for 14 days. The stimulated leg was randomly assigned and sham stimulation was done on the opposite leg by transcutaneous nerve stimulation. Muscle mass was estimated by cross-sectional area computed tomography and strength was measured by Cybex ergometry. Following the initial TMS period, 8 of 10 subjects were given a 12-week course of TE (3 mg/kg/wk) followed by 14 days of TMS. Neither TMS nor TE improved strength. Following 12 weeks of TE, there was an average increase in muscle mass of at least 8.7 +/- 1.6 cm2. These findings are consistent with the TE—increased muscle mass in DM1 as measured by creatinine clearance and total body potassium. The dissociation of mass and strength following TE and the failure of exercise to improve strength may have significance in characterizing the muscle defect in DM1.
{"title":"The Effects of Testosterone and Transcutaneous Muscle Stimulation on Strength and Muscle Mass in Myotonic Dystrophy","authors":"Salman F Bhai, A. Lizarraga, Morgan McCreary, S. Kolkin, J. Kissel, R. Barohn","doi":"10.17161/rrnmf.v3i4.18396","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i4.18396","url":null,"abstract":" In myotonic dystrophy type 1 (DM1) quadriceps weakness often results in severe functional limitations and genu recurvatum. To improve quadriceps strength the effects of isometric tetanic contractions using transcutaneous muscle stimulation (TMS) and testosterone enanthate (TE) were assessed. Ten DM1 subjects underwent unilateral TMS 6 hours per day for 14 days. The stimulated leg was randomly assigned and sham stimulation was done on the opposite leg by transcutaneous nerve stimulation. Muscle mass was estimated by cross-sectional area computed tomography and strength was measured by Cybex ergometry. Following the initial TMS period, 8 of 10 subjects were given a 12-week course of TE (3 mg/kg/wk) followed by 14 days of TMS. Neither TMS nor TE improved strength. Following 12 weeks of TE, there was an average increase in muscle mass of at least 8.7 +/- 1.6 cm2. These findings are consistent with the TE—increased muscle mass in DM1 as measured by creatinine clearance and total body potassium. The dissociation of mass and strength following TE and the failure of exercise to improve strength may have significance in characterizing the muscle defect in DM1.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124285804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-07DOI: 10.17161/rrnmf.v4i1.17002
N. Park, M. Muriello, D. Basel, Caroline Kielczewski, Matthew Harmelink
Variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy with lower extremity dominance (SMALED2) which is characterized with lower extremity muscle weakness and atrophy. We describe a novel, heterozygous BICD2 variant (c.1661T>C, [p.Leu554Pro]) in a 21-month-old female patient with a more severe phenotypic presentation than the typical SMALED2 expression including arthrogryposis multiplex congenita, absent deep tendon reflexes, respiratory insufficiency, and cerebral depression. The variant p.Leu554Pro is located just outside of a domain that interacts with the motor protein KIF5A. The detailed neuro-phenotyping and clinical course presented here expand the understanding of BICD2 related disease.
{"title":"Non-5q Spinal Muscular Atrophy in a Patient With a Novel BICD2 Missense Variant","authors":"N. Park, M. Muriello, D. Basel, Caroline Kielczewski, Matthew Harmelink","doi":"10.17161/rrnmf.v4i1.17002","DOIUrl":"https://doi.org/10.17161/rrnmf.v4i1.17002","url":null,"abstract":"Variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy with lower extremity dominance (SMALED2) which is characterized with lower extremity muscle weakness and atrophy. We describe a novel, heterozygous BICD2 variant (c.1661T>C, [p.Leu554Pro]) in a 21-month-old female patient with a more severe phenotypic presentation than the typical SMALED2 expression including arthrogryposis multiplex congenita, absent deep tendon reflexes, respiratory insufficiency, and cerebral depression. The variant p.Leu554Pro is located just outside of a domain that interacts with the motor protein KIF5A. The detailed neuro-phenotyping and clinical course presented here expand the understanding of BICD2 related disease.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126479406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-26DOI: 10.17161/rrnmf.v3i3.16362
U. Desai, H. Ilieva, A. Peltier
Familial amyloid polyneuropathy is a rare autosomal dominant disorder caused by mutations in the transthyretin gene, TTR. More than 100 mutations in the TTR gene are known. p.Val30Met was identified first as a cause of FAP and is the most common mutation worldwide. p.Val30Met is associated with peripheral neuropathy while p.Val142lle (C.424G>A) (also known as p.Val122lle) is associated with cardiac amyloidosis [1, 2, 3] . In this context, we report a patient harboring p.Val142lle mutation with exclusive small fiber neuropathy and absence of any cardiac involvement representing genotypic-phenotypic heterogenicity.
{"title":"p.Val142lle/p.Val122lle (C.424G>A) Transthyretin Mutation Presenting Exclusively As Small Fiber Neuropathy","authors":"U. Desai, H. Ilieva, A. Peltier","doi":"10.17161/rrnmf.v3i3.16362","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.16362","url":null,"abstract":"Familial amyloid polyneuropathy is a rare autosomal dominant disorder caused by mutations in the transthyretin gene, TTR. More than 100 mutations in the TTR gene are known. p.Val30Met was identified first as a cause of FAP and is the most common mutation worldwide. p.Val30Met is associated with peripheral neuropathy while p.Val142lle (C.424G>A) (also known as p.Val122lle) is associated with cardiac amyloidosis [1, 2, 3] . In this context, we report a patient harboring p.Val142lle mutation with exclusive small fiber neuropathy and absence of any cardiac involvement representing genotypic-phenotypic heterogenicity.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130758047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-26DOI: 10.17161/rrnmf.v3i3.18049
N. Katyal, Praveen Attele, Bryce C. Hoelscher, E. Ensrud, R. Barohn
The “Ear of the Lynx" radiological sign refers to fluid attenuated inversion recovery (FLAIR) sequence cone-shaped abnormalities at the forceps minor region of genu of corpus callosum, seen on magnetic resonance imaging (MRI) of the brain. This radiological sign has been reported in Hereditary Spastic Paraplegia (SPG) type 11 and SPG Type 15. In this case report, we discuss the first description of this radiological sign in a 59 year old female patient with PLS.
{"title":"“Ear of the Lynx\" radiological sign in a patient with Primary Lateral Sclerosis.","authors":"N. Katyal, Praveen Attele, Bryce C. Hoelscher, E. Ensrud, R. Barohn","doi":"10.17161/rrnmf.v3i3.18049","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.18049","url":null,"abstract":"The “Ear of the Lynx\" radiological sign refers to fluid attenuated inversion recovery (FLAIR) sequence cone-shaped abnormalities at the forceps minor region of genu of corpus callosum, seen on magnetic resonance imaging (MRI) of the brain. This radiological sign has been reported in Hereditary Spastic Paraplegia (SPG) type 11 and SPG Type 15. In this case report, we discuss the first description of this radiological sign in a 59 year old female patient with PLS. \u0000 ","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131298233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-26DOI: 10.17161/rrnmf.v3i3.16509
Joshua Luster, Brent Jacdobus, J. Sladky, Timothy R Fullam
Myasthenia Gravis is a disorder characterized by autoantibodies targeting different proteins across the neuromuscular junction. The typical presentation of Myasthenia Gravis involves oculobulbar weakness, classically ptosis that may or may not be symmetric. Patients may also present with a more dramatic presentation of generalized weakness or even in myasthenic crisis requiring respiratory support for oxygenation. While these are the common presentations, our patient, a 63 year old male, presented with an atypical presentation of what is described as Limb-Girdle Myasthenia Gravis. This patient presented with proximal arm and leg weakness that rapidly progressed and lead to loss of reflexes, appearing to be a myelopathy prior to obtaining an electromyography/nerve conduction study which demonstrated decrement of 21% in ulnar, 22% in median, and 59% of radial nerves during 2Hz repetitive stimulation. Our patient improved with plasmapheresis and prednisone with full recovery of strength.
{"title":"Atypical Myasthenia Gravis Presentation with Limb-Girdle Weakness","authors":"Joshua Luster, Brent Jacdobus, J. Sladky, Timothy R Fullam","doi":"10.17161/rrnmf.v3i3.16509","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.16509","url":null,"abstract":"Myasthenia Gravis is a disorder characterized by autoantibodies targeting different proteins across the neuromuscular junction. The typical presentation of Myasthenia Gravis involves oculobulbar weakness, classically ptosis that may or may not be symmetric. Patients may also present with a more dramatic presentation of generalized weakness or even in myasthenic crisis requiring respiratory support for oxygenation. While these are the common presentations, our patient, a 63 year old male, presented with an atypical presentation of what is described as Limb-Girdle Myasthenia Gravis. This patient presented with proximal arm and leg weakness that rapidly progressed and lead to loss of reflexes, appearing to be a myelopathy prior to obtaining an electromyography/nerve conduction study which demonstrated decrement of 21% in ulnar, 22% in median, and 59% of radial nerves during 2Hz repetitive stimulation. Our patient improved with plasmapheresis and prednisone with full recovery of strength.","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128070652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-26DOI: 10.17161/rrnmf.v3i3.18508
R. Barohn
{"title":"Letter from the Founding Facilitator for Volume 3, Issue 3","authors":"R. Barohn","doi":"10.17161/rrnmf.v3i3.18508","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.18508","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128157912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-26DOI: 10.17161/rrnmf.v3i3.18526
R. Barohn
{"title":"Introduction to the 2022 Neuromuscular Study Group","authors":"R. Barohn","doi":"10.17161/rrnmf.v3i3.18526","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.18526","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130001098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-26DOI: 10.17161/rrnmf.v3i3.17959
Avneet Hans, Salman F Bhai, M. Dimachkie
{"title":"Bike and Biopsy to the Diagnosis","authors":"Avneet Hans, Salman F Bhai, M. Dimachkie","doi":"10.17161/rrnmf.v3i3.17959","DOIUrl":"https://doi.org/10.17161/rrnmf.v3i3.17959","url":null,"abstract":"","PeriodicalId":309700,"journal":{"name":"RRNMF Neuromuscular Journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122133563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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