Abstracting and Indexing

  • Google Scholar
  • CrossRef
  • WorldCat
  • ResearchGate
  • Academic Keys
  • DRJI
  • Microsoft Academic
  • Academia.edu
  • OpenAIRE

Diabetic Cidp-Like Neuropathy in a Pazient With Becker’s Myotonia

Article Information

Stefano Zoccolella*, Nicola Pietrafusa, Paola Vincenza Mancino, Concetta Luisi, Carla Tortorella 

Department of Neurosciences and Organs of Sense, University of Bari, Bari, Italy

*Corresponding Author: Stefano Zoccolella MD, U. O. Neurofisiopatologia, 1Department of Neurosciences and Organs of Sense, University of Bari, 70100 Bari Italy

Received: 23 April 2021; Accepted: 29 April 2021; Published: 22 October 2021

Citation:

Stefano Zoccolella, Nicola Pietrafusa, Paola Vincenza Mancino, Concetta Luisi, Carla Tortorella. Diabetic Cidp-Like Neuropathy in a Pazient With Becker’s Myotonia. Journal of Psychiatry and Psychiatric Disorders 5 (2021): 168-171.

View / Download Pdf Share at Facebook

Abstract

Becker’s disease (BM) is an autosomal recessive congenital myotonia, characterized by impaired muscle relaxation after voluntary contraction and variable degrees of muscle weakness. BM is caused by mutations in CLCN1 gene on chromosome 7q35 encoding the major skeletal muscle chloride channel CLC-1. Although neuropathy has been associated with myotonic dystrophy, to date no case of neuropathy during the course of BM has been reported. Herein we describe the case of a patient with BM and diabetes who progressive gait disturbance, distal paresthesias, muscle weakness. Neurophysiological assessment and diagnostic lumbar puncture revealed the presence of a chronic inflammatory demyelinating neuropathy. The case here presented developed a diabetic chronic demyelinating inflammatory neuropathy resembling CIDP during the course of BM. The most consistent hypothesis explaining such an unusual association is that the inflammatory neuropathy is related to the concomitant occurrence of diabetes.

Keywords

Chronic inflammatory demyelinating neuropathy; Myotonia; Becker’s Disease; Diabetes

Chronic inflammatory demyelinating neuropathy articles; Myotonia articles; Becker?s Disease articles; Diabetes articles

Chronic inflammatory demyelinating neuropathy articles Chronic inflammatory demyelinating neuropathy Research articles Chronic inflammatory demyelinating neuropathy review articles Chronic inflammatory demyelinating neuropathy PubMed articles Chronic inflammatory demyelinating neuropathy PubMed Central articles Chronic inflammatory demyelinating neuropathy 2023 articles Chronic inflammatory demyelinating neuropathy 2024 articles Chronic inflammatory demyelinating neuropathy Scopus articles Chronic inflammatory demyelinating neuropathy impact factor journals Chronic inflammatory demyelinating neuropathy Scopus journals Chronic inflammatory demyelinating neuropathy PubMed journals Chronic inflammatory demyelinating neuropathy medical journals Chronic inflammatory demyelinating neuropathy free journals Chronic inflammatory demyelinating neuropathy best journals Chronic inflammatory demyelinating neuropathy top journals Chronic inflammatory demyelinating neuropathy free medical journals Chronic inflammatory demyelinating neuropathy famous journals Chronic inflammatory demyelinating neuropathy Google Scholar indexed journals Myotonia articles Myotonia Research articles Myotonia review articles Myotonia PubMed articles Myotonia PubMed Central articles Myotonia 2023 articles Myotonia 2024 articles Myotonia Scopus articles Myotonia impact factor journals Myotonia Scopus journals Myotonia PubMed journals Myotonia medical journals Myotonia free journals Myotonia best journals Myotonia top journals Myotonia free medical journals Myotonia famous journals Myotonia Google Scholar indexed journals Becker’s Disease articles Becker’s Disease Research articles Becker’s Disease review articles Becker’s Disease PubMed articles Becker’s Disease PubMed Central articles Becker’s Disease 2023 articles Becker’s Disease 2024 articles Becker’s Disease Scopus articles Becker’s Disease impact factor journals Becker’s Disease Scopus journals Becker’s Disease PubMed journals Becker’s Disease medical journals Becker’s Disease free journals Becker’s Disease best journals Becker’s Disease top journals Becker’s Disease free medical journals Becker’s Disease famous journals Becker’s Disease Google Scholar indexed journals Diabetes articles Diabetes Research articles Diabetes review articles Diabetes PubMed articles Diabetes PubMed Central articles Diabetes 2023 articles Diabetes 2024 articles Diabetes Scopus articles Diabetes impact factor journals Diabetes Scopus journals Diabetes PubMed journals Diabetes medical journals Diabetes free journals Diabetes best journals Diabetes top journals Diabetes free medical journals Diabetes famous journals Diabetes Google Scholar indexed journals Neuropathy articles Neuropathy Research articles Neuropathy review articles Neuropathy PubMed articles Neuropathy PubMed Central articles Neuropathy 2023 articles Neuropathy 2024 articles Neuropathy Scopus articles Neuropathy impact factor journals Neuropathy Scopus journals Neuropathy PubMed journals Neuropathy medical journals Neuropathy free journals Neuropathy best journals Neuropathy top journals Neuropathy free medical journals Neuropathy famous journals Neuropathy Google Scholar indexed journals Peripheral neuropathy articles Peripheral neuropathy Research articles Peripheral neuropathy review articles Peripheral neuropathy PubMed articles Peripheral neuropathy PubMed Central articles Peripheral neuropathy 2023 articles Peripheral neuropathy 2024 articles Peripheral neuropathy Scopus articles Peripheral neuropathy impact factor journals Peripheral neuropathy Scopus journals Peripheral neuropathy PubMed journals Peripheral neuropathy medical journals Peripheral neuropathy free journals Peripheral neuropathy best journals Peripheral neuropathy top journals Peripheral neuropathy free medical journals Peripheral neuropathy famous journals Peripheral neuropathy Google Scholar indexed journals Myotonic dystrophy articles Myotonic dystrophy Research articles Myotonic dystrophy review articles Myotonic dystrophy PubMed articles Myotonic dystrophy PubMed Central articles Myotonic dystrophy 2023 articles Myotonic dystrophy 2024 articles Myotonic dystrophy Scopus articles Myotonic dystrophy impact factor journals Myotonic dystrophy Scopus journals Myotonic dystrophy PubMed journals Myotonic dystrophy medical journals Myotonic dystrophy free journals Myotonic dystrophy best journals Myotonic dystrophy top journals Myotonic dystrophy free medical journals Myotonic dystrophy famous journals Myotonic dystrophy Google Scholar indexed journals CIDP associated with diabetes articles CIDP associated with diabetes Research articles CIDP associated with diabetes review articles CIDP associated with diabetes PubMed articles CIDP associated with diabetes PubMed Central articles CIDP associated with diabetes 2023 articles CIDP associated with diabetes 2024 articles CIDP associated with diabetes Scopus articles CIDP associated with diabetes impact factor journals CIDP associated with diabetes Scopus journals CIDP associated with diabetes PubMed journals CIDP associated with diabetes medical journals CIDP associated with diabetes free journals CIDP associated with diabetes best journals CIDP associated with diabetes top journals CIDP associated with diabetes free medical journals CIDP associated with diabetes famous journals CIDP associated with diabetes Google Scholar indexed journals CSF albumin ratio articles CSF albumin ratio Research articles CSF albumin ratio review articles CSF albumin ratio PubMed articles CSF albumin ratio PubMed Central articles CSF albumin ratio 2023 articles CSF albumin ratio 2024 articles CSF albumin ratio Scopus articles CSF albumin ratio impact factor journals CSF albumin ratio Scopus journals CSF albumin ratio PubMed journals CSF albumin ratio medical journals CSF albumin ratio free journals CSF albumin ratio best journals CSF albumin ratio top journals CSF albumin ratio free medical journals CSF albumin ratio famous journals CSF albumin ratio Google Scholar indexed journals disorders  articles disorders  Research articles disorders  review articles disorders  PubMed articles disorders  PubMed Central articles disorders  2023 articles disorders  2024 articles disorders  Scopus articles disorders  impact factor journals disorders  Scopus journals disorders  PubMed journals disorders  medical journals disorders  free journals disorders  best journals disorders  top journals disorders  free medical journals disorders  famous journals disorders  Google Scholar indexed journals

Article Details

Abbreviations

Becker’s disease (BM); Peripheral neuropathy (PN); Myotonic dystrophy (MD); Chronic inflammatory demyelinating neuropathy (CIDP); CIDP associated with diabetes (DM-CIDP)

Becker’s disease (BM) is a recessive congenital myotonia, characterized by impaired muscle relaxation after voluntary contraction and variable degrees of muscle weakness [1]. BM is caused by mutations in CLCN1 gene on chromosome 7q35 encoding the major skeletal muscle chloride channel CLC-1 [1]. Although peripheral neuropathy (PN) both primary or  secondary to other cause may develop in up to 50% of cases during the course of myotonic dystrophy, no case of  chronic inflammatory demyelinating neuropathy (CIDP) during the course of BM has been reported.

A 54-year-old man suffering from diabetes by many years (in therapy with oral anti-diabetic drugs), hypercholesterolemia (without statin use) and obesity presented with progressive gait disturbance, distal paresthesias, muscle weakness of lower limbs in the last two years.

Since childhood, he also presented prolonged muscular contraction after voluntary movement, especially after rest, involving upper limbs and face. Genetic testing highlighted in the patient and his brother homozygous mutation 1598C>T in the CLCN1 gene. On admission, neurological examination revealed  diffuse muscle hypertrophy, with slight proximal weakness, generalized areflexia and diminished perception of touch, pain, vibration and position sense at the four limbs. Grip-release myotonia was evocable. Complete blood count,  thyroid, liver and kidney function tests, cobalamin, folate, C-reactive protein level, thyroid and renal function, anti-gangliosides, antinuclear antibodies, creatine kinase, serology for HCV, HBV, EBV,  HIV, and immunofixation were normal. Total-Cholesterol was 271mg/dL, Glycated hemoglobin was 7.9%. Electromyography revealed chronic denervation, myopathic motor unit potentials, with fibrillations, myotonic discharges in the four limbs muscles. Nerve conduction studies showed diffuse slowing of motor and sensory conduction with conduction blocks. (figure) Lumbar puncture demonstrated increased cerebrospinal fluid proteins (90mg/dl), increased CSF albumin ratio and normal cell count. Treatment with intravenous immunoglobulin (5-day 0.4gr/kg/die) was started with a moderately positive response.

Herein we report on a patient  with BM and diabetes  who developed a chronic demyelinating inflammatory neuropathy resembling CIDP.  The most consistent hypothesis explaining such an unusual association is that the inflammatory neuropathy is related to the concomitant occurrence of diabetes. The relationship between CIDP and diabetes is not completely understood but the odds ratio of the occurrence of CIDP was reported to be up to 11 times higher in diabetic than in non-diabetic subjects [2].  CIDP associated with diabetes (DM-CIDP) and Idiopathic CIDP patients present similar clinical and electrophysiological features and response rate to treatment [3]. Another less feasible explanation is that such an association is not casual. There is a growing evidences that a mutation in a structural gene can provoke an intense inflammatory reaction [4]. Inflammatory foci with both T cells, macrophages, and B cells at the site of muscle degeneration have been observed in muscle samples of patients with Duchenne’s Muscular Dystrophy, a disease caused by mutations in the structural muscle protein dystrophin [5]. Inflammatory neuropathy resembling CIDP has been observed in patients with myotonic dystrophy type 1, and a toxic RNA gain-of-function of the mutated DMPK gene which can directly affect the innate immune system has been hypothesized [6]. In children with X-linked adrenoleukodystrophy there is an intense inflammatory demyelinating neuro-pathology in the brain, with many features of acute disseminated encephalomyelitis and multiple sclerosis. The disease is caused by a mutation in ABCD1, a peroxisomal membrane protein (ALDP) that is part of a small family of related peroxisomal membrane proteins [7]. All these findings emphasize how genetic or epigenetic disorders in structural genes can lead to inflammation and even autoimmunity. Although the most likely hypothesis underlying the clinical feature in our patient is a casual association, genetic mutations can lead to an immune response which is indistinguishable from autoimmunity, as exemplified from other genetic disorders. Further studies however are needed on large cohort of BM patients to clarify these aspects.

fortune-biomass-feedstock

Figure: Motor conduction studies showing slowing of conduction with partial conduction block in the right tibial nerve (conduction velocity (cv): 39m/sec, normal: 54.9 ± 7.6; Map amplitude ankle: 8.2mV; Knee: 4.5mV; normal value 15 ± 3.2) and in the left medianus (Below elbow-wrist vc: 45.5m/s; normal: 56.7 ± 3.8; below-above elbow vc: 42.5m/s, normal: 57.5 ± 3.4;Wrist amplitude: 13.5mV, normal: 13.2 ± 5.0; below elbow amplitude: 8.7, normal: 13.5 ± 4.1; above elbow: 9.0, normal: 13.7 ± 4.1).

Sensory conduction studies showing slowing of conduction and reduced potential amplitude in the right suralis nerve (cv: 37.9, normal: 46 ± 0.5, amplitude: 3.3mV; normal: 3.5 ± 0.2) and in the left ulnaris (cv: 41.9, normal: 57 ± 5; amplitude 9.6mV; normal: 15-50).

References

  1. Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257 (1992): 797-800.
  2. Hermans MC, Faber CG, Vanhoutte EK, et al. Peripheral neuropathy in myotonic dystrophy type 1. J Peripher Nerv Syst 16 (2011): 24-29.
  3. Steinman L. Four Easy Pieces Interconnections between Tissue Injury, Intermediary Metabolism, Autoimmunity, and Chronic Degeneration. Proc Am Thorac Soc 3 (2006): 484-486.
  4. Haq RU, Endlebury PWW, Ries FTj, Andan TR. Chronic inflammatory demyelinating polyradiculoneuropathy in diabetic patients. Muscle Nerve 27 (2003): 465-470.
  5. Gussoni E, Pavlath GK, Miller RG, et al. Specific T-cell receptor gene rearrangements at the site of muscle degeneration in Duchenne muscular dystrophy. J Immunol 153 (1994): 4798-4805.
  6. Zoccolella S, Vecchio E, Direnzo V, et al. Concomitant myotonic dystrophy type 1, CIDP-like neuropathy and Hashimoto thyroiditis: a causal link? Eur J Neurol 19 (2012): e117-e118.
  7. Moser H, Dubye P, Fatemi A. Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol 17 (2004): 263-269.

Journal Statistics

Impact Factor: * 2.6

CiteScore: 2.9

Acceptance Rate: 11.01%

Time to first decision: 10.4 days

Time from article received to acceptance: 2-3 weeks

Discover More: Recent Articles

Grant Support Articles

© 2016-2024, Copyrights Fortune Journals. All Rights Reserved!