Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

Pagola-Lorz, Inmaculada; Vicente, Esther; Ibáñez, Berta; Torné, Laura; Elizalde-Beiras, Itsaso; García-Solaesa, Virginia; García, F.J.; Delfrade, Josu; Jericó, Ivonne

doi:10.1186/s13023-019-1227-x

Cited by 31 publications

(27 citation statements)

References 40 publications

(35 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, some patients, especially those with milder disabilities, might not find it necessary to seek healthcare services (e.g., some MC, DM1, CMT and HNPP). The fact that almost a three times higher prevalence of CMT and DM1 has been found in other studies, could imply that the prevalence of less severe manifesting disorders is underestimated in our material (Braathen et al, 2011;Pagola-Lorz et al, 2019). On the other hand, both regional and ethnic variations of HNMD do exist.…”

Section: Ta B L E 2 (Continued)mentioning

confidence: 51%

“…Likewise, if all the HNMD would be considered, the prevalence in Northern England would be close to 100/100,000 (Norwood et al, 2009). In line with the previous reasoning, combining results from two recent studies from Spain would hypothetically give a total HNMD prevalence of 102/100,000 (Lousa et al, 2019;Pagola-Lorz et al, 2019).…”

Section: Ta B L E 2 (Continued)mentioning

confidence: 57%

See 1 more Smart Citation

The prevalence of hereditary neuromuscular disorders in Northern Norway

et al. 2020

View full text Add to dashboard Cite

Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary neuromuscular disorders. Results We identified 542 patients with a hereditary neuromuscular disorder living in Northern Norway, giving a point prevalence of 111.9/100,000 on January 1, 2020. The prevalence of children (<18 years old) and adults (≥18 years old) were 57.8/100,000 and 125.1/100,000, respectively. Inherited neuropathies had a prevalence of 38.8/100,000. Charcot–Marie–Tooth and hereditary neuropathy with liability to pressure palsies had a prevalence of 29.9/100,000 and 8.3/100,000, respectively. We calculated a prevalence of 3.7/100,000 for spinal muscular atrophies and 2.4/100,000 for Kennedy disease. Inherited myopathies were found in 67.7/100,000. Among these, we registered 13.4/100,000 myotonic dystrophy type 1, 6.8/100,000 myotonic dystrophy type 2, 7.3/100,000 Duchenne muscular dystrophy, 1.6/100,000 Becker muscular dystrophy, 3.7/100,000 facioscapulohumeral muscular dystrophy, 12.8/100,000 limb‐girdle muscular dystrophy, 2.5/100,000 hypokalemic periodic paralysis and 11.4/100,000 myotonia congenita. Conclusion Our total prevalence was higher than previously hypothesized in European population‐based studies. The prevalence was especially high for myotonia congenita and limb‐girdle muscular dystrophy. The prevalence of Charcot–Marie–Tooth polyneuropathy was higher than in most European studies, but lower than previously reported in epidemiological studies in other regions of Norway.

show abstract

Section: Ta B L E 2 (Continued)mentioning

confidence: 51%

Section: Ta B L E 2 (Continued)mentioning

confidence: 57%

The prevalence of hereditary neuromuscular disorders in Northern Norway

et al. 2020

View full text Add to dashboard Cite

show abstract

“…The prevalence of NMD varies in different geographic regions and ethnic groups. In a nationwide study in New Zealand, the reported age-standardized prevalence was 22.3 per 100,000 and two-fold higher among individuals of European ancestry compared to Māori, Pasifika, and Asian ethnic groups [1]. In the northern Navarre region of Spain, the prevalence of NMD was as high as 59 per 100,000 individuals [1].…”

Section: Introductionmentioning

confidence: 97%

“…In a nationwide study in New Zealand, the reported age-standardized prevalence was 22.3 per 100,000 and two-fold higher among individuals of European ancestry compared to Māori, Pasifika, and Asian ethnic groups [1]. In the northern Navarre region of Spain, the prevalence of NMD was as high as 59 per 100,000 individuals [1]. For all types of Charcot-Marie-Tooth disease (CMT), this measure was 15.7 per 100,000, including the highest number of 6.9 per 100,000 reported for CMT type 1A [2].…”

Section: Introductionmentioning

confidence: 98%

Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy

Bazrafshan

Kushlaf

Kakroo

et al. 2021

Cells

View full text Add to dashboard Cite

Novel genetic variants exist in patients with hereditary neuromuscular disorders (NMD), including muscular dystrophy. These patients also develop cardiac manifestations. However, the association between these gene variants and cardiac abnormalities is understudied. To determine genetic modifiers and features of cardiac disease in NMD patients, we have reviewed electronic medical records of 651 patients referred to the Muscular Dystrophy Association Care Center at the University of Cincinnati and characterized the clinical phenotype of 14 patients correlating with their next-generation sequencing data. The data were retrieved from the electronic medical records of the 14 patients included in the current study and comprised neurologic and cardiac phenotype and genetic reports which included comparative genomic hybridization array and NGS. Novel associations were uncovered in the following eight patients diagnosed with Limb-girdle Muscular Dystrophy, Bethlem Myopathy, Necrotizing Myopathy, Charcot-Marie-Tooth Disease, Peripheral Polyneuropathy, and Valosin-containing Protein-related Myopathy. Mutations in COL6A1, COL6A3, SGCA, SYNE1, FKTN, PLEKHG5, ANO5, and SMCHD1 genes were the most common, and the associated cardiac features included bundle branch blocks, ventricular chamber dilation, septal thickening, and increased outflow track gradients. Our observations suggest that features of cardiac disease and modifying gene mutations in patients with NMD require further investigation to better characterize genotype–phenotype relationships.

show abstract

“…Neuromuscular disorders are the spectrum of diseases in which the primary abnormality is in the peripheral nervous system, which involves the anterior horn cell, the peripheral nerve, the neuromuscular junction, and the muscle (1) . They can appear at any age and may present with positive (cramps, contractures, muscle hypertrophy, and myalgias) and negative (exercise intolerance, fatigue, and muscle atrophy and weakness) symptoms (2,3) . Traditional diagnostic tests are electromyography (EMG), nerve conduction studies, and muscle biopsy (4) .…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Uzunhan¹,

Ertürk²,

Cubuk³

et al. 2020

BUCH

View full text Add to dashboard Cite

Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics. Methods: Patients aged 0-18 years old with neuromuscular manifestations (e.g., weakness, hypotonia, creatine kinase elevation) who were admitted to Okmeydani Training and Research Hospital between January 2017 and July 2019 were included. Retrospectively, patient demographics, clinical signs, laboratory tests, diagnoses, clinical follow-up were recorded. Results: Forty-five patients aged 67.8±59.6 months were included in the study. Thirteen (29%) patients were female, and 32 (71%) were male. Creatine kinase levels were increased in 26 (58%) patients (median: 3211 IU/L). Twenty-four patients underwent electromyography; seven patients had neuropathy and nine patients muscular pathologies. Three (0.07%) patients underwent muscle biopsy and had nonspecific myopathic changes. Twenty-six (58%) patients out of 45 had a definite diagnosis, and 21 of these diagnoses were genetically confirmed. Seven patients had been subjected to next generation sequencing, and five of these were diagnosed with dystrophinopathy, hypokalemic periodic paralysis, mental retardation autosomal dominant type 9, Ullrich muscular dystrophy, and calpainopathy. Altogether, the most common diagnoses were dystrophinopathy, spinal muscular atrophy, and chronic inflammatory demyelinating polyneuropathy. Conclusion: After a patient history is taken, a physical examination is conducted, and serum creatine kinase levels are measured, establishment of diagnosis is possible through targeted genetic tests for diseases like dystrophinopathy. However, for patients who cannot be diagnosed with this approach, neuromuscular panels and whole exome sequencing can provide a diagnosis.

show abstract

Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

Cited by 31 publications

References 40 publications

The prevalence of hereditary neuromuscular disorders in Northern Norway

The prevalence of hereditary neuromuscular disorders in Northern Norway

Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Contact Info

Product

Resources

About