Related Experiment Videos
Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases
M S De Angelis1, L Palmucci, M Leone
1Paolo Peirolo Centre for Neuromuscular Diseases, Clinica Neurologica II, Università di Torino, Italy.
Abstract:
We reviewed the 288 cases of centronuclear (myotubular) myopathy reported in the literature to correlate the clinical findings with the different modes of inheritance. Autosomal dominant (AD) inheritance occurred in 65 patients in 14 families. Recessive X-linked transmission (XLR) was present in 84 males belonging to 14 families. In 54 familial cases and in 85 isolated cases the mode of inheritance was uncertain. The clinical picture was very severe in the XLR form with most dying in the first year of life, and more heterogeneous and much less severe in the AD form. Clinico-genetic analysis of unclassified familial and isolated cases suggested that most of them fitted in either the AD and the XLR form. The diagnosis of the autosomal recessive mode of inheritance, in the past considered to be the most frequent type, is possible in a minority of cases and is difficult to document.
Insights
Centronuclear (myotubular) myopathy presents differently based on inheritance. X-linked recessive forms are severe, while autosomal dominant forms are less severe and more varied.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Centronuclear myopathy (CNM), also known as myotubular myopathy, is a rare congenital muscle disorder.
- Understanding the genetic basis and clinical presentation is crucial for diagnosis and management.
Purpose of the Study:
- To correlate clinical findings with different modes of inheritance in centronuclear myopathy.
- To analyze the clinical spectrum and genetic transmission patterns.
Main Methods:
- Literature review of 288 reported cases of centronuclear myopathy.
- Clinico-genetic analysis to determine inheritance patterns (autosomal dominant, X-linked recessive, uncertain).
Main Results:
- Autosomal dominant (AD) inheritance found in 65 patients; X-linked recessive (XLR) in 84 males.
- XLR form is severe, with high mortality in the first year.
- AD form is more heterogeneous and less severe.
- Autosomal recessive inheritance is rare and difficult to document.
Conclusions:
- Clinical presentation of centronuclear myopathy varies significantly with inheritance pattern.
- XLR and AD forms are the most common, with distinct clinical severities.
- The diagnosis of autosomal recessive centronuclear myopathy is challenging and applies to a minority of cases.