Myotonic muscular dystrophy differential diagnosis

2020-02-22 02:49 Myotonic muscular dystrophy (MMD) is a multisystem disorder that affects the brain, skeletal and smooth muscles, eyes, heart, gastrointestinal tract, lungs, and endocrine system. The 2 forms, type 1 and type 2, are caused by different gene mutations. Type 2 does not have a congenital or early childhood form and is not discussed further here.

Diagnosis. Doctors with experience in neuromuscular disorders often find it easy to diagnose type 1 myotonic dystrophy (DM1). Sometimes, just by looking at a person, asking a few questions and examining him or her, they're well on the way to suspecting myotonic muscular dystrophy differential diagnosis Paramyotonia congenita and hyperkalemic periodic paralysis are associated with clinical paramyotonia and electrical myotonia. Acid maltase deciency often produces myotonic potentials with out clinical evidence of myotonia or paramyotonia. The differential diagnosis of these myotonic disorders is

Diagnosis and tests. These are described in detail below. The differential diagnosis of myotonic dystrophy includes causes of myotonia: paramyotonia, congenital myotonia, mild tetanus and the rare stiff man syndrome. At later stages the myotonic dystrophy may resemble limbgirdle atrophy, polymyositis or dermatomyositis. myotonic muscular dystrophy differential diagnosis

Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. However, the path to a correct diagnosis of myotonic dystrophy can be long and complex, and delays in diagnosis Definition. Myotonic Dystrophy is a multisystem disease, which can initially present with symptoms of ptosis, ophthalmoplegia, extraocular myotonia, and decreased visual acuity. Myotonic Dystrophy is a trinucleotide repeat, autosomal dominant disease characterized by an inability to relax (myotonia) and muscle wasting (muscular dystrophy). INTRODUCTION. Myotonic dystrophy (DM) is a clinically and genetically heterogeneous disorder. There are two major forms: DM1, for a century known as Steinert disease DM2, recognized in 1994 as a milder version of DM1 These autosomal dominant conditions are among the most common forms of adultonset muscular dystrophy. myotonic muscular dystrophy differential diagnosis In men, there may be early balding and an inability to have children. Myotonic dystrophy is an autosomal dominant disorder which is typically inherited from a person's parents. There are two main types: type 1 (DM1), due to mutations in the DMPK gene,

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