Public condition directory

Pediatrics

Browse public condition summaries from China medical resources by stable specialty category.

553 conditionsPage 55 of 62

Internal MedicineNeurology

Congenital myotonia

Congenital myotonia is a hereditary skeletal muscle ion channelopathy caused by genetic mutations, commonly characterized by muscle stiffness and hypertrophy in the limbs. Clinically, it presents as the inability of striated muscles to relax promptly after voluntary contraction, remaining in a state of sustained contraction for a period. The disease can be divided into Thomsen's disease (autosomal dominant inheritance) and Becker's disease (autosomal recessive inheritance), which differ in their inheritance patterns and clinical features.

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Internal MedicineNeurology

Peroneal muscular atrophy in children

Charcot-Marie-Tooth disease (CMT) in children is the most common inherited disorder of the peripheral nervous system. It is characterized by a slow and progressive course, typically manifesting in childhood or adolescence. The disease presents with progressive muscle weakness and atrophy, which may be accompanied by mild to moderate sensory loss, diminished or absent deep tendon reflexes, and foot deformities such as pes cavus, foot drop, and hammer toes.

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Internal MedicineNeurology

Pediatrics

Congenital myotonia

Peroneal muscular atrophy in children

Childhood muscular dystrophy

Myotonic dystrophy

Diffuse sclerosis

Leukomalacia

Progressive spinal muscular atrophy

Spinal muscular atrophy

Familial idiopathic myoclonus