Muscle disorders I

摘要: This chapter discusses the congenital muscular dystrophies, X- linked pseudohypertrophic facioscapulohumeral dystrophy, limb-girdle ocular myopathies, and disorders of lipid metabolism. Congenital dystrophies can be with dementia cerebral malformations it appears to autosomal recessive. It is possible that other patients who are without or epilepsy, have similar intracerebral malformations. In dystrophy malformations, muscle symptoms distinctive: they not usually present at birth but develop between two eight months age severe. The weakness affects face, neck limbs, proximally more than distally. X-linked which include Duchenne Becker Emery-Dreifuss dystrophy. also explains generally produces during second decade, however sometimes earlier later this. Onset may facial followed soon by shoulder girdle weakness, simultaneous muscles. myopathies a heterogenous group disorders, in heterogenity recognized presence absence mitochondrial abnormalities muscle, family studies.