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Hereditary myopathies with early respiratory insufficiency in adults
Elie Naddaf1, Margherita Milone1
1Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
Insights
Hereditary myopathies causing early respiratory issues are rare but significant in adults. Timely diagnosis of these muscle disorders is crucial for effective patient care and treatment.
Area of Science:
- Neurology
- Genetics
- Pulmonology
Background:
- Hereditary myopathies presenting with early respiratory insufficiency are infrequently recognized in adults.
- This clinical presentation is often underestimated, leading to diagnostic delays.
Purpose of the Study:
- To identify and characterize common hereditary myopathies associated with early respiratory insufficiency.
- To emphasize the importance of prompt diagnosis for managing these conditions.
Main Methods:
- Retrospective review of clinical and laboratory data from patients with hereditary myopathies and early respiratory insufficiency.
- Inclusion criteria: disease-causing mutations or specific histopathology; exclusion: cardiomyopathy.
- Analysis of 22 identified patients.
Main Results:
- Half of the patients presented with isolated respiratory symptoms initially.
- Commonly diagnosed myopathies included adult-onset Pompe disease, myofibrillar myopathy, multi-minicore disease, and myotonic dystrophy type 1.
- Diagnoses were frequently delayed, impacting the initiation of ventilatory support.
Conclusions:
- Common hereditary myopathies linked to early respiratory insufficiency were identified.
- A prompt diagnosis is critical for improving patient outcomes and management strategies.
Introduction:
Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults.
Methods:
We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded.
Results:
We identified 22 patients; half had isolated respiratory symptoms at onset. The diagnosis of the myopathy was often delayed, resulting in delayed ventilatory support. The most common myopathies were adult-onset Pompe disease, myofibrillar myopathy, multi-minicore disease, and myotonic dystrophy type 1. Single cases of laminopathy, MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike events), centronuclear myopathy, and cytoplasmic body myopathy were identified.
Conclusion:
We highlighted the most common hereditary myopathies associated with early respiratory insufficiency as the predominant clinical feature, and underscored the importance of a timely diagnosis for patient care. Muscle Nerve 56: 881-886, 2017.
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