Desmin-related myofibrillar myopathy, is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other proteins throughout the cell. Presentation
Common symptoms of the disease are weakness and atrophy in the distal muscles of the lower limbs which progresses to the hands and arms, then to the trunk, neck and face. Respiratory impairment often follows. Genetics
There are three major types of inheritance for this disease: Autosomal dominant, autosomal recessive and de novo. The most severe form is autosomal recessive and it also has the earliest onset. It usually involves all three muscle tissues and leads to cardiac and respiratory failure as well as intestinal obstruction. Autosomal Dominant inheritance shows a later onset and slower progression. It usually involves only one or two of the muscle tissues. De novo diseases occur when a new mutation arises in the person that was not inherited through either parent. This form has a wide range of symptoms and varies depending on the mutation made. Pathophysiology
The sarcomeres become misaligned and result in the disorganization of muscle fibers. This mutation also results in muscle cell death by apoptosis and necrosis.
Conjugated estrogens/medroxyprogesterone acetate (CEs/MPA), sold under the brand names Prempro and Premphase, is a combination product of conjugated estrogens (Premarin), an estrogen, and medroxyprogesterone acetate (Provera), a progestogen, which is used in menopausal hormone therapy for the treatment of menopausal symptoms.In 2017, it was the 294th most commonly prescribed medication in the United States, with more than one million prescriptions. See also
Estradiol/medroxyprogesterone acetate
Estradiol cypionate/medroxyprogesterone acetate
List of combined sex-hormonal preparations

References
External links
"Estrogens mixture with medroxyprogesterone acetate". Drug Information Portal. U.S. National Library of Medicine.