What does ADCM stand for?
ADCM stands for Autosomal Dominant Centronuclear Myopathy
This definition appears somewhat frequently
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People with autosomal dominant centronuclear myopathy typically have normal early development. However, muscle weakness usually becomes evident during adolescence or early adulthood. The first symptoms are usually muscle pain during exercise and difficulty walking. Muscle weakness progressively worsens, and some people with this condition require wheelchair assistance in mid- to late adulthood. People with this condition may have droopy eyelids (ptosis) and weakness in the muscles that control eye movement (ophthalmoplegia).
The Autosomal Dominant form of Centronuclear Myopathy is generally not as severe as the x-linked or recessive forms of the condition and follows a mild course. It has been noted that the condition can affect individuals differently with onset ranging from birth to 50 years. Many are often able to walk well into adulthood but do find themselves in a wheelchair in later life, however the age that this occurs is not consistent among those affected.
In addition, DNM2 is implicated in membrane trafficking from the plasma membrane and Golgi, to allow the formation and fission of budding vesicles . It is of interest to note that myotubularin, implicated in the X-linked form of CNM, has also been implicated in membrane trafficking and endocytosis, although its precise function remains to be determined. Recent studies on cells transfected with CNM-related DNM2 mutants suggest lack of localisation to the centrosome and centrosome malfunction as a possible pathogenetic mechanism in DNM2-related CNM. However, the impacts of mutations on allosteric enzymatic activity and membrane remodelling properties of dynamin 2 remain to be investigated. Recurrent and de novo DNM2 mutations were originally identified following a positional candidate approach in 11 families with a mild form of autosomal-dominant centronuclear myopathy.
Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and generalized muscle weakness at birth. The autosomal dominant form results from DNM2 mutations and has been described with early childhood and adult onset (ADCNM). Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in BIN1, encoding amphiphysin 2. Here we present the first clinical description of intrafamilal variability in two first-degree cousins with a novel BIN1 stop mutation. In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of BIN1-related CNM to non skeletal muscle defects. We provide an up-to-date review of all previous cases with ARCNM and BIN1 mutations.