Neutropenia Though not always present, the cardinal characteristics of this multi-system disorder include: cardiomyopathy (dilated or hypertrophic, possibly with left ventricular noncompaction and/or endocardial fibroelastosis), neutropenia (chronic, cyclic, or intermittent), underdeveloped skeletal musculature and muscle weakness, growth delay, exercise intolerance, cardiolipin abnormalities, and 3-methylglutaconic aciduria. It can be associated with stillbirth.<unk>  is manifested in a variety of ways at<unk> . A majority of<unk>  patients are hypotonic at<unk> , show signs of cardiomyopathy within the first few months of life, and experience a deceleration in growth in the first year, despite adequate nutrition. As patients progress into childhood, their height and weight lag significantly behind other children. While most patients express normal intelligence, a high proportion of<unk>  patients also express mild or moderate learning disabilities. Physical activity is also hindered due to diminished muscular development and muscular hypotonia. Many of these disorders are resolved after puberty. Growth accelerates during puberty, and many patients reach a normal adult height. Cardiomyopathy is one of the more severe manifestations of<unk> . The myocardium is dilated, reducing the systolic pump of the ventricles. For this reason, most<unk>  patients have left myocardial thickening (hypertrophy). While cardiomyopathy can be life-threatening, it is commonly resolved or substantially improved in<unk>  patients after puberty. Neutropenia is another deadly manifestation of<unk> . Neutropenia is a granulocyte disorder that results in a low production of neutrophils, the body's primary defenders against bacterial infections. Surprisingly, however,<unk>  patients have relatively fewer bacterial infections than other patients with neutropenia. The clinical manifestations presented by patients with this<unk>  include: dilated cardiomyopathy (enlarged and weakened heart). Most men diagnosed with<unk>  present DCM up to ten years of age, and endocardial fibroelastosis (EFE) or left ventricular non-compaction (LVNV) may occur. When symptoms occur during pregnancy between the 2nd and 3rd trimester, it can cause complications to the fetus, such as heart failure, hydrops fetalis, miscarriage or stillbirth. In adolescents, the ventricular arrhythmia responsible for sudden cardiac death can occur. Skeletal myopathy (muscle weakness) causes delay in motor development, loss of strength and muscle tone, exercise intolerance and lethargy. During the developmental phase, boys present deficits in weight height and even pubertal delay. With regard to neutropenia, some patients develop a chronic, cyclic or intermittent condition. These changes in neutrophils allow patients with the<unk>  to be vulnerable to infections, such as mouth ulcers, skin abscesses, fever and bacterial infections.
Barth syndrome
Worth syndrome
Terson syndrome
Hunan hand syndrome
Limb girdle syndrome
Lamb-Shaffer syndrome
Achard syndrome
Alien hand syndrome