Respiratory and cardiac function in japanese patients with dysferlinopathy

Nishikawa, Akio; Mori‐Yoshimura, Madoka; Segawa, Kazuhiko; Hayashi, Yukiko; Takahashi, Toshiaki; Saito, Yuko; Nonaka, Ikuya; Krahn, Martin; Levy, Nicolas; Shimizu, Jun; Mitsui, Jun; Kimura, En; Goto, Jun; Yonemoto, Naohiro; Akiyama, Masashi; Nishino, Ichizo; Oya, Yasushi; Murata, Miho

doi:10.1002/mus.24741

Cited by 23 publications

(39 citation statements)

References 20 publications

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“…This is the first report of a patient with ANO5 ‐related muscular dystrophy who started with non‐invasive ventilation. Cardiac dysfunction and respiratory insufficiency are known to be a frequent complication of the sarcoglycanopathies and LGMDR9/LGMD2I but has only recently been described in LGMDR1/LGMD2A and the dysferlinopathies . There are conflicting reports on cardiac dysfunction in ANO5 ‐related muscular dystrophy .…”

Section: Discussionmentioning

confidence: 99%

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Dam

Frankhuizen

Linssen³

et al. 2019

Clinical Genetics

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In this retrospective study, we conducted a clinico‐genetic analysis of patients with autosomal recessive limb‐girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand‐dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3‐5/LGMD2C‐E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (<1%). The estimated minimum prevalence of AR‐LGMD and MMD in the Netherlands amounted to 14.4 × 10−6. Thirty‐three novel mutations were identified. A wide range in age of onset (0‐72 years) and loss of ambulation (5‐74 years) was found. Fifteen patients (6%) initially presented with asymptomatic hyperCKemia. Cardiac abnormalities were found in 35 patients (17%). Non‐invasive ventilation was started in 34 patients (14%). Both cardiac and respiratory involvement occurs across all subtypes, stressing the need for screening in all included subtypes.

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Section: Discussionmentioning

confidence: 99%

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Dam

Frankhuizen

Linssen³

et al. 2019

Clinical Genetics

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“…32 Four patients used nocturnal ventilation and reported sleep apnea. This may be coincidental as all have FVC ≥50% and 3 patients have body mass index >30.…”

Section: Discussionmentioning

confidence: 99%

“…Cardiac abnormalities have previously been reported in dysferlinopathy, but whether these are a consequence of dysferlinopathy or an alternative etiology is not established. 9,32–35 Low serum creatinine seen in 70% of patients is relevant for renal function monitoring, as creatinine-dependent methods will be uninformative. 36 …”

Section: Discussionmentioning

confidence: 99%

The Clinical Outcome Study for dysferlinopathy

et al. 2016

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Objective:To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.Methods:The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.Results:There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi myopathy or limb-girdle muscular dystrophy, clinical presentation and examination was not strikingly different. Respiratory impairment and cardiac dysfunction were observed in a minority of patients. A substantial delay in diagnosis was previously common but has been steadily reducing, suggesting increasing awareness of dysferlinopathies.Conclusions:These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and variability in disease progression and form the basis for trial design.

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“…A cardiac MRI study showed subclinical myocardial fibrosis in 33% of patients, which was associated in half of cases with diastolic dysfunction . Many patients develop latent cardiac dysfunction, and a few patients have dilated cardiomyopathy, other cardiac rhythm changes, or left ventricular hypertrophy . One patient died with hypertrophic obstructive cardiomyopathy and supra‐ventricular tachycardia requiring pacing …”

Section: Clinical Featuresmentioning

confidence: 99%

“…In a 23‐year follow‐up study to investigate disease progression, many patients developed restrictive lung disease with mild obstructive signs in small airways, reduced forced vital capacity, and severe respiratory failure . In another series, some patients needed noninvasive ventilation, and 1 died of respiratory failure …”

Section: Clinical Featuresmentioning

confidence: 99%

Progress and challenges in diagnosis of dysferlinopathy

Fanin

Angelini

2016

Muscle Nerve

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Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a group of recessive disorders called dysferlinopathies. They are characterized by wide clinical heterogeneity. To diagnose dysferlinopathy, a clinical neuromuscular workup, including electrophysiological and muscle imaging investigations, is essential to support subsequent laboratory testing. Increased serum creatine kinase levels, distal or proximal muscle weakness, and myalgia with onset in the second or third decades are the main clinical features of the disease. In muscle biopsies, severe dysferlin deficiency by immunoblot or its abnormal localization by immunohistochemistry are the gold standard, as they have a high diagnostic value. Dysferlin testing on monocytes is a valuable alternative to muscle immunoblotting. Molecular techniques for gene mutation detection, such as next generation sequencing, have improved the genetic diagnosis, which is crucial for treatment and genetic counselling. Muscle Nerve 54: 821-835, 2016.

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Respiratory and cardiac function in japanese patients with dysferlinopathy

Abstract: Patients with dysferlinopathy may develop severe respiratory failure and latent cardiac dysfunction. Both respiratory and cardiac function should be monitored diligently.

Cited by 23 publications

References 20 publications

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

The Clinical Outcome Study for dysferlinopathy

Progress and challenges in diagnosis of dysferlinopathy

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