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Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [ 1 ]
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]
The first type is the congenital type known as early onset LAMA2 congenital muscular dystrophy type 1A or MDC1A. It presents at birth and has a relatively severe clinical presentation. Characteristically it manifests in muscle weakness, hyperlaxity or hypotonia, respiratory difficulties and developmental delay.
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases.They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. [3] [4] Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal ...
There is no cure for Schwartz–Jampel syndrome. Treatment is aimed at reducing muscle stiffness and cramping and may include massage, muscle warming and gradual strengthening exercises. Muscle relaxants or anti-seizure medications, especially carbamazepine, may be used. Eye symptoms such as blepharospasm might be relieved by Botox. Otherwise ...
X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is found almost always in male infants. It is one of the severest congenital muscle diseases and is characterized by marked muscle weakness, hypotonia and feeding and breathing difficulti
Kocher–Debré–Semelaigne syndrome; Other names: Debré–Semelaigne syndrome, cretinism-muscular hypertrophy, hypothyroidism-large muscle syndrome, hypothyreotic muscular hypertrophy in children, infantile myxoedema-muscular hypertrophy, myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome, muscular pseudohypertrophy-hypothyroidism ...
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