INDIAN PEDIATRICS 746 VOLUME 41__JULY 17, 2004 dystrophy as a significant cause of idiopathic polyhydramnios. They suggested that all women having polyhydramnios with either a family history of myotonic dystrophy or ultrasonographic evidence of fetal hypotonia, including positional abnormalities of extremities should be offered DNA testing. It appears that prenatal ventriculomegaly may also be ...

Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory fun...

Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Three forms of the disease are clinically recognized. The severe neonatal form, the childhood onset form, and an adult-onset form. We report a 50 year old male patient with centronuclear myopathy (CNM) in whom the disease manifested itself in the fifth decade of life...

congenital myopathies are a clinically and genetically heterogeneous group of inherited muscle disorders characterized clinically by reduced fetal movements, hypotonia, weakness and developmental delay beginning at birth or in the first year of life. however, there can be a wide variation in clinical findings including mild and asymptomatic presentation to a severe form within each subtype with...

Key points • Fingerprint body is a rare congenital myopathy. • Only 5 cases of fingerprint myopathy have been described to date. • Fingerprint myopathy is defined by subsarcolemmal inclusions on muscle biopsy; the inclusions have a characteristic lamellar pattern on electron microscopy. • The genetic basis of fingerprint myopathy is not yet known. • An increasing number of protein aggregate myo...

OBJECTIVE Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population. METHODS A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically. RESULTS Twenty-five patie...

A 11-year-old boy with hypothyroidism developed generalized muscle hypertrophy and proximal muscular weakness. Electromyographic findings were suggestive of myopathy. He had had congenital nystagmus (CN) since early infancy. Although the association of childhood hypothyroidism and CN has been documented before, the triad of hypothyroidism, hypertrophic myopathy and CN exhibited by the patient i...