Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?
Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-03-01
|
| Series: | Brain Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2076-3425/11/3/398 |
| _version_ | 1827697105688330240 |
|---|---|
| author | Antonino Lupica Vincenzo Di Stefano Andrea Gagliardo Salvatore Iacono Antonia Pignolo Salvatore Ferlisi Angelo Torrente Sonia Pagano Massimo Gangitano Filippo Brighina |
| author_facet | Antonino Lupica Vincenzo Di Stefano Andrea Gagliardo Salvatore Iacono Antonia Pignolo Salvatore Ferlisi Angelo Torrente Sonia Pagano Massimo Gangitano Filippo Brighina |
| author_sort | Antonino Lupica |
| collection | DOAJ |
| description | Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disorders to provide a practical approach to the diagnosis and the correct management of INMD. A considerable number of biomarkers have been reported that support the diagnosis of INMD, but the role of an expert clinician is crucial. Hence, the complete knowledge of such abnormalities can accelerate the diagnostic workup supporting the referral to specialists in neuromuscular disorders. |
| first_indexed | 2024-03-10T13:02:33Z |
| format | Article |
| id | doaj.art-0bcbb5c81a2a4d03b904db71042a5c1d |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T13:02:33Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-0bcbb5c81a2a4d03b904db71042a5c1d2023-11-21T11:24:03ZengMDPI AGBrain Sciences2076-34252021-03-0111339810.3390/brainsci11030398Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?Antonino Lupica0Vincenzo Di Stefano1Andrea Gagliardo2Salvatore Iacono3Antonia Pignolo4Salvatore Ferlisi5Angelo Torrente6Sonia Pagano7Massimo Gangitano8Filippo Brighina9Department of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyDepartment of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, 90121 Palermo, ItalyInherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disorders to provide a practical approach to the diagnosis and the correct management of INMD. A considerable number of biomarkers have been reported that support the diagnosis of INMD, but the role of an expert clinician is crucial. Hence, the complete knowledge of such abnormalities can accelerate the diagnostic workup supporting the referral to specialists in neuromuscular disorders.https://www.mdpi.com/2076-3425/11/3/398biomarkersinherited neuromuscular disordersrare diseases |
| spellingShingle | Antonino Lupica Vincenzo Di Stefano Andrea Gagliardo Salvatore Iacono Antonia Pignolo Salvatore Ferlisi Angelo Torrente Sonia Pagano Massimo Gangitano Filippo Brighina Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? Brain Sciences biomarkers inherited neuromuscular disorders rare diseases |
| title | Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? |
| title_full | Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? |
| title_fullStr | Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? |
| title_full_unstemmed | Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? |
| title_short | Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers? |
| title_sort | inherited neuromuscular disorders which role for serum biomarkers |
| topic | biomarkers inherited neuromuscular disorders rare diseases |
| url | https://www.mdpi.com/2076-3425/11/3/398 |
| work_keys_str_mv | AT antoninolupica inheritedneuromusculardisorderswhichroleforserumbiomarkers AT vincenzodistefano inheritedneuromusculardisorderswhichroleforserumbiomarkers AT andreagagliardo inheritedneuromusculardisorderswhichroleforserumbiomarkers AT salvatoreiacono inheritedneuromusculardisorderswhichroleforserumbiomarkers AT antoniapignolo inheritedneuromusculardisorderswhichroleforserumbiomarkers AT salvatoreferlisi inheritedneuromusculardisorderswhichroleforserumbiomarkers AT angelotorrente inheritedneuromusculardisorderswhichroleforserumbiomarkers AT soniapagano inheritedneuromusculardisorderswhichroleforserumbiomarkers AT massimogangitano inheritedneuromusculardisorderswhichroleforserumbiomarkers AT filippobrighina inheritedneuromusculardisorderswhichroleforserumbiomarkers |