Genetic counseling in Pompe disease.

Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have a child affected, at each pregnancy. The diagnosis could be achieved by biochemical and/or molecular testing. Carrier detection and prenatal diagnosis are available when the molecular defect is known.

Cardiac involvement in patients with spinal muscular atrophies.

The spinal muscular atrophies (SMAs) include a group of disorders characterized by progressive weakness of the lower motor neurons. Several types of SMAs have been described based on age onset of clinical features: Acute infantile (SMA type I), chronic infantile (SMA type II), chronic juvenile (SMA type III), and adult onset (SMA type IV) forms. The incidence is about 1:6,000 live births with a carrier frequency of 1:40 for the severe form and 1:80 for the juvenile form. The mortality and/or morbidity rates of SMAs are inversely correlated with the age at onset. SMAs are believed to only affect skeletal muscles; however, new data on SMA mice models suggest they may also impact the heart. Aim of the study was to retrospectively examine the cardiological records of 37 type molecularly confirmed II/III SMA patients, aged 6 to 65 years, in order to evaluate the onset and evolution of the cardiac involvement in these disorders. All patients had a standard ECG and a routine echocardiography. The parameters analysed were the following: Heart rate (HR), PQ interval, PQ segment, Cardiomyopathic Index (ratio QT/PQs), ventricular and supraventricular ectopic beats, pauses > or = 2,5 msec, ventricle diameters, wall and septum thickness, ejection fraction, fiber shortening. The results showed that HR and the other ECG parameters were within the normal limits except for the Cardiomyopathic Index that was higher than the normal values (2,6-4,2) in 2 patients. Left ventricular systolic function was within the normal limits in all patients. A dilation of the left ventricle without systolic dysfunction was observed in only 2 patients, aged respectively 65 and 63 years; however they were hypertensive and/or affected by coronary artery disease. Data here reported contribute to reassure patients and their clinicians that type II/III SMAs do not present heart dysfunction.

Corneal thickness and endothelial cell characteristics in patients with myotonic dystrophy.

PURPOSE: To compare the characteristics of the endothelial cells of patients with myotonic dystrophy and those of normal subjects to determine if thicker corneas in patients with myotonic dystrophy are the result of their having abnormal endothelial cells leading to corneal edema. DESIGN: Prospective, comparative case series. PARTICIPANTS: Fifty-two eyes of patients with myotonic dystrophy and 52 eyes of normal age- and gender-matched subjects. METHODS: Central corneal thickness (CCT) and endothelial cell counts and shape were measured with an SP 3000P specular microscope (Topcon, Tokyo, Japan) in patients with myotonic dystrophy and were compared with those of age- and gender-matched healthy subjects. MAIN OUTCOME MEASURES: Central corneal thickness, endothelial cell counts, pleomorphism, and coefficient of variation (CoV). RESULTS: In patients with myotonic dystrophy, the mean+/-standard deviation CCT measurement was 533+/-38 microm; the mean+/-standard deviation cell count was 2601+/-365 cell/mm(2); and the mean+/-standard deviation CoV was 23.3+/-4.4 (P<0.001). The mean+/-standard deviation pleomorphism was 64.4+/-8.4%. In healthy subjects, the mean+/-standard deviation CCT measurement was 514+/-27 microm (P = 0.002); the mean+/-standard deviation cell count was 2649+/-363 cell/mm(2) (P = 0.48); the mean+/-standard deviation CoV was 27.6+/-5.5 (P<0.001); and the mean+/-standard deviation pleomorphism was 61.1+/-8.6% (P = 0.04). CONCLUSIONS: Thicker corneas found in patients with myotonic dystrophy are not related to endothelial number or appearance as assessed in this study.