Monday, March 10, 2008

Werdnig-Hoffmann's syndrome

Overview also known as infantile sexual spinal muscular atrophy syndrome, type 1 Hoffmann's syndrome. Cause pathogenesis is still unknown. An autosomal recessive inheritance. Visibility anterior horn cells in the medulla oblongata and the movement of nuclear degeneration. Clinical features of infantile sexual incidence of muscle tension reduction and automatic loss of the campaign. Half of the cases developed symptoms at birth or neonatal morbidity, and the other half in a year after the incidence. Sexual performance of spinal muscular atrophy, weakness, pain stimulus response, but no lay movements, Initially violations waist and thigh muscles, and gradually spread to the trunk, upper and lower leg, the final and respiratory muscle paralysis caused bronchial pneumonia, tendon reflexes weakened or absent, the infant could not turn first, to recover lost sucking ability. Differential diagnosis (1) severe myasthenia gravis () is a neuromuscular transmission impaired confines of chronic diseases. MG-children in a short period of time after the incidence and characteristics : ① suffer extreme muscle fatigue. After a rest or services, which is cholinesterase drugs reduce illness; ② volatile symptoms of myasthenia gravis; ③ involvement muscle areas can not be explained by the distribution of nerve; ④ addition myasthenia gravis, not normally nervous system involvement with the symptoms and signs. (2) of congenital muscular dystrophy (congenital muscular dystrophy ) clinical features : ① since birth that is hypotonia; ② slender limbs, joints excessive buckling; ③ trunk muscle atrophy, not absorbed, scoliosis, buckling; ④ cranial nerve involvement light muscle; ⑤ more joints and bone deformities; ⑥ sweating; ⑦ normal intelligence; ⑧ serum CPK, LDH, GOT increased. EMG suggest myogenic damages. (3) polymyositis (degeneration) can be any age onset, clinical performance varied. Symmetry features of the proximal limbs, neck muscle, pharynx muscle weakness, muscle tenderness. 60% of patients with skin lesions, mostly confined to the face, upper chest, limb extensor side, particularly symmetrical joints back lesions, the performance of purple edema erythema, telangiectasia, pigmentation, Raynaud's phenomenon. LDK serum CPK, GOT, GPT increased significantly. EMG spontaneous potential, such as defibrillators.

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