Myopathy
see also: Etymology of Myopathy
The myopathies are a sub-group of the family of the neuro-muscular Maladie S resulting in a degeneration of the muscular fabric.
- a myopathy is a direct attack of one of the components of the Muscle.
- most frequent of the hereditary myopathies is the Maladie of Steinert.
- the most known, the myopathy of Duchenne of Boulogne is a Genetic disease caused by a change of the Gène of the Dystrophine , leading to the synthesis of a protein truncated.
Clinical demonstrations
Etiology of the myopathies
Various myopathies
Primitive myopathy
Muscular dystrophies
Bound to X
- muscular Dystrophy of muscular Duchenne
- Dystrophy of symptomatic Becker
- Carrying the muscular dystrophy of muscular Duchenne
- Dystrophy of Emery-Dreifuss
- vacuolar Myopathy with glycogénose autophagic or excessive myopathy with autophagie
With dominant transmission
- muscular Dystrophy of the belts 1A
- muscular Dystrophy of the belts 1B
- muscular Dystrophy of the belts 1C
- muscular Dystrophy of the belts 1D
- Cardiomyopathie dilated family with disorder of conduction and muscular dystrophy
- muscular Dystrophy of the belts 1E
- muscular Dystrophy facio-scapulo-humérale standard 1A standard FSHD
- muscular Dystrophy facio-scapulo-humérale 1B
- standard myotonic Dystrophy 1 of standard Steinert
- myotonic Dystrophy 2
- oculopharyngée muscular Dystrophy
- distal Myopathy oculopharyngo
- muscular Dystrophy of Emery-Dreifuss autosomic dominant
- Myopathy of Bethlem
- Myopathy related to desmine or myopathy with muscular desmine overload
- Dystrophy tibiale or distal myopathy of Udd
- distal Myopathy of type Welander
- distal Myopathy of Laing or standard distal myopathy 1
- distal Myopathy with weakness of the vocal cords and the pharynx or standard distal myopathy 2
- congenital Fibrosis of the extrinsic muscles oculo-engines type 1
- congenital Fibrosis of the extrinsic muscles oculo-engines type 2
- congenital Fibrosis of the extrinsic muscles oculo-engines type 3
- congenital Fibrosis of the extrinsic muscles oculo-engines type 3A
- Myopathy with body of inclusion
- muscular Hypertrophy in connection with a disorder myostatine
With recessive transmission
- muscular Dystrophy of the belts 2A
- muscular Dystrophy of the belts 2B (muscular Dystrophy of the belts allelic to the distal myopathy of Miyoshi)
- muscular Dystrophy of the belts 2C
- muscular Dystrophy of the belts 2D
- muscular Dystrophy of the belts 2nd
- muscular Dystrophy of the belts 2F
- muscular Dystrophy of the belts 2G
- muscular Dystrophy of the belts 2:00, standard Hutterite
- muscular Dystrophy of the belts 2I
- distal Myopathy of Nonaka type or distal myopathy with vacuoles bordered
- distal Myopathy of Miyoshi type allelic with muscular dystrophy of the belts
- autosomic oculopharyngée muscular Dystrophy recessive
- Myopathy with body of inclusion 2
- Myosite with body of inclusions
- recessive autosomic muscular Dystrophy associated with a bulleuse épidermolyse
- congenital muscular Dystrophy by deficit in mérosine
- congenital muscular Dystrophy, secondary deficit in mérosine
- congenital muscular Dystrophy by deficit in intégrine
- congenital muscular Dystrophy with stiffness of the spinal column
- Syndrome Muscle-Eye-Brain
- Syndrome of Walker-Warburg
- muscular Dystrophy of standard Émery-Dreifuss 3
Congenital myopathies with structural anomalies
Bound to X
- congenital Myopathy myotubulaire
- Myopathies with digital fingerprints
With dominant transmission
- congenital Myopathy with cores central or central axes
- Myopathy némaline or congenital myopathy with sticks type 1
- congenital Myopathy with minicore
- congenital Myopathy centronucléaire
- Myopathy némaline or congenital myopathy with sticks of the type Amish
- Myopathy with tubular aggregates
With recessive transmission
- Myopathy némaline or congenital myopathy with sticks type 2
- congenital Myopathy with accumulation of filaments fine (thin filaments)
- congenital Myopathy with multi-minicores and ophtalmoplégie external
- Myopathy sarcotubulaire
- Myopathy with backwardness, small size and defect endocrinien (syndrome of Chudley)
Unknown
- Myopathy with reducing bodies
- congenital Disproportion of the fibers
- Myopathy with body streaked
Acquired inflammatory myopathies
- Dermatomyosite
- Polymyosite
- Myosite with inclusion
- mixed Connectivity with syndrome of overlapping
- nodular Myosite focal distance
- Myopathies of the vasculites
- Myofasciite with macrophages
- Myosite sarcoïdosite
Myotonie
With dominant tranmission
- Rippling muscle disease
With recessive tranmission
- Syndrome of Schwartz-Jampel
- Disease of Brody
Diseases of the ionic channels
See also: Canalopathie
With dominant transmission
- Myotonie congenital of Thomsen
- hyperkaliemic periodic Paralysis (Disease of Gamstorp)
- hypokaliemic periodic Paralysis
- periodic Paralysis, sensitive to potassium with cardiac dysrythmy (Syndrome of Andersen)
- normokaliemic periodic Paralysis
- Paramyotonie congenital (of Von Eulenburg)
With recessive transmission
- Myotonie congenital of Becker
Metabolic myopathy
See also: metabolic Myopathy
Secondary myopathy
Sources
- muscular Dystrophy Canada
See too
External bond
- Myopathies and other diseases neuromusculaires AFM