Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations were macrocephaly, unusal facies, simian crease, clinodactyly, decreased muscle tone, accelerated bone age and congenital heart diseases. We report this with a brief review of related literature.
Facies ; Heart Diseases ; Korea ; Macrocephaly ; Muscle Hypotonia

Primary merosin (laminin alpha2 chain)-deficient congenital muscular dystrophy (CMD) is a uncommon and severe form of CMD, which is caused by the mutations in the laminin alpha2 chain gene. It is an autosomal recessively inherited form of muscular dystrophy that is associated with severe neonatal hypotonia, a high serum creatine kinase level, and abnormal brain imaging without intellectual dysfunction. We report a case of merosin-deficient CMD confirmed by the immunocytochemical analysis of the frozen muscle biopsy. This is the first case of merosin-deficient CMD in Korea.
Biopsy ; Creatine Kinase ; Korea ; Laminin* ; Muscle Hypotonia ; Muscular Dystrophies* ; Neuroimaging

Joubert syndrome is a rare autosomal recessive disorder characterized by cerebellar vermian hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns and abnormal eye movements. It is usually diagnosed during infancy or thereafter by hypotonia and developmental delay. We experienced a case of Joubert syndrome presenting in newborn period manifesting as unexplainable episodic hyperpnea and apnea.
Apnea ; Eye Movements ; Humans ; Infant, Newborn ; Muscle Hypotonia

Floppy infant syndrome is a disease in which infants present with generalized hypotonia at birth or early infancy. There are many possible etiologies, which make a specific diagnosis difficult. The expanding knowledge of genetic disorders has made noninvasive genetic testing available for specific diagnoses. Therefore, it is very important for clinicians to use a systematic approach for the investigation of such children. In this chapter, I review the many possible etiologies of the floppy infant syndrome, and a systematic approach for the evaluation of this disorder will be proposed.
Child ; Genetic Testing ; Humans ; Infant ; Muscle Hypotonia ; Parturition

Centrinuclear myopathy, an uncommon condition, is one of the congenital myopathies. It is characterized by the presence of central nuclei of muscle cells which can be detected on electronmicroscopy. It is believed to arise as a result of maturational arrest with persistence of microtubes postnatally. We report a boy with generalized hypotonia and muscle weakness who was diagnosed as centrinuclear myopathy by muscle biopsy.
Biopsy ; Humans ; Male ; Muscle Cells ; Muscle Hypotonia ; Muscle Weakness ; Muscular Diseases ; Myopathies, Structural, Congenital*

Nemaline myopathy is a rare congenital m opathy, characterized by nonprogressive or slowely progressive muscle weakness associated with rod-like structures in muscle fibers and characteristic dysmorphic features. We report the first farnilial nemaline myopathy in two generations of the same family, confirmed by muscle biospy in an 11-year-old boy and his mother. The patients had hypotonia and slowly progressive muscle weakness of the four limbs associated with characteristic facial dysmorphism and skeletal deformities. Light and electron microscopic study of a muscle biopsy showed numerous nemaline rods in both patients.
Biopsy ; Child ; Congenital Abnormalities ; Extremities ; Family Characteristics ; Humans ; Male ; Mothers ; Muscle Hypotonia ; Muscle Weakness ; Myopathies, Nemaline*

Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogenous disorders characterized clinically by neonatal hypotonia, delayed motor milestones, joint contractures, and dystrophic changes in the muscles. The classic forms of CMDs are subclassified into merosin positive and deficient (negative) types. Merosin (laminin alpha chain)-negative CMD is caused by the mutation in the basal lamina of the alpha2 chain gene (LAMA2 gene at 6q22-23). Merosin deficiency could disrupt the attachment of muscle cell to the extracellular matrix and lead to muscle cell necrosis. We report a case of merosin-negative CMD, confirmed by immunohistochemical staining of muscle samples, which is uncommon form in Korea.
Basement Membrane ; Contracture ; Extracellular Matrix ; Joints ; Korea ; Laminin ; Muscle Cells ; Muscle Hypotonia ; Muscles ; Muscular Dystrophies ; Necrosis

On chromosome Xp21 region, several genes such as glycerol kinase (GK) gene, adrenal hypoplasia congenita gene and Duchenne muscular dystrophy gene are located contiguously. Xp21 contiguous gene deletion syndrome involves the glycerol kinase gene deletion together with the adrenal hypoplasia congenita and/or Duchenne muscular dystrophy gene. The clinical features of a patient with a Xp21 contiguous gene deletion syndrome are sum of each disease,psychomotor retardation and lethargy for glycerol kinase deficiency, hyperpigmentation and salt wasting dehydration for congenital adrenal hypoplasia and muscular weakness and hypotonia for Duchenne muscular dystrophy. We experienced and reviewed two cases of Xp21 contiguous gene deletion syndrome with literatures.
Dehydration ; Gene Deletion* ; Glycerol Kinase ; Humans ; Hyperpigmentation ; Lethargy ; Muscle Hypotonia ; Muscle Weakness ; Muscular Dystrophy, Duchenne

Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.
Biopsy ; Child ; Electromyography ; Genetic Testing ; Humans ; Muscle Hypotonia ; Muscles ; Muscular Dystrophies ; Neurologic Examination

Congenital fiber type disproportion (CFTD) is a form of congenital myopathy characterized by histologic findings of the smallness of type 1 fiber and type 1 fiber predominance. It is usually associated with hypotonia and motor weakness of the limb muscles at birth or the neonatal period. We report a 6-year-old girl with limb weakness and ophthalmoplegia, whose muscle pathology showed the classic pattern of CFTD without any other abnormality.
Child ; Extremities ; Female ; Humans ; Muscle Hypotonia ; Muscles ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Ophthalmoplegia* ; Parturition ; Pathology