The diagnosis of<unk> 1 and<unk> 2 can be difficult due to the large number of neuromuscular disorders, most of which are very rare. One study found that diagnosis is made an average of seven years after symptom onset for<unk> 1, and fourteen years for<unk> 2. As a result, people with multiple symptoms that may be explained by a complex disorder such as<unk> 1 or<unk> 2 will generally be referred by their primary care physician to a neurologist for diagnosis. Depending on the presentation of symptoms, people may be referred to a number of medical specialists including cardiologists, ophthalmologists, endocrinologists, and rheumatologists. In addition, the clinical presentation is obscured by the degree of severity or the presence of unusual phenotypes. Though there is presently no cure for<unk>  and management is currently symptom-based, a precise diagnosis is still necessary to anticipate multiple other problems that may develop over time (e.g. cataracts). An accurate diagnosis is important to assist with appropriate medical monitoring and management of symptoms. In addition, genetic counseling should be made available to all people because of the high risk of transmission. Potentially serious anesthetic risks are important to note, so the presence of this disorder should be brought to the attention of all medical providers. Classification +<unk>  subtypes Type Gene Repeat Anticipation Severity<unk> 1<unk> PK CTG Yes Moderate-severe<unk> 2 ZNF9 CCTG Minimal/none Mild-moderate There are two main types of<unk> . Type 1 <unk> 1), also known as Steinert disease, has a severe congenital form and a milder childhood-onset form as well as an adult-onset form. This disease is most often in the facial muscles, levator palpebrae superioris, temporalis, sternocleidomastoids, distal muscles of the forearm, hand intrinsic muscles, and ankle dorsiflexors. Type 2 <unk> 2), also known as proximal<unk>  myopathy (PROMM), is rarer and generally manifests with milder signs and symptoms than<unk> 1. Other forms of<unk>  not associated with<unk> 1 or<unk> 2 genetic mutations have been described. One case which was proposed as a candidate for the "DM3" label, was later characterized as an unusual form of inclusion body myopathy associated with Paget's disease and frontotemporal dementia. Genetic testing Genetic tests, including prenatal testing, are available for both confirmed forms. Molecular testing is considered the gold standard of diagnosis. Prenatal testing Testing at pregnancy to determine whether an unborn child is affected is possible if genetic testing in a family has identified a<unk> PK mutation. This can be done at 10–12 weeks gestation by a procedure called chorionic villus sampling (CVS) that involves removing a tiny piece of the placenta and analyzing DNA from its cells. It can also be done by amniocentesis after 14 weeks gestation by removing a small amount of the amniotic fluid surrounding the baby and analyzing the cells in the fluid. Each of these procedures has a small risk of miscarriage associated with it and those who are interested in learning more should check with their doctor or genetic counselor. There is also another procedure called preimplantation diagnosis that allows a couple to have a child that is unaffected by the genetic condition in their family. This procedure is experimental and not widely available. Those interested in learning more about this procedure should check with their doctor or genetic counselor. Predictive testing It is possible to test someone who is at risk for developing<unk> 1 before they are showing symptoms to see whether they inherited an expanded trinucleotide repeat. This is called predictive testing. Predictive testing cannot determine the age of onset that someone will begin to have symptoms or the course of the disease. If the child is not having symptoms, the testing is not possible with an exception of emancipated minors as a policy. Auxiliary testing Electrodiagnostic testing (EMG and NCS) can detect the electrical signs of<unk>  before<unk>  becomes noticeable to the affected individual. Muscle biopsy can reveal damage of the muscle, but findings are generally nonspecific and do not greatly aid in diagnosis.
Myotonic dystrophy
Prader–Willi syndrome
Becker muscular dystrophy
Myotonia congenita
Muscular dystrophy
Ullrich congenital muscular dystrophy
Madras motor neuron disease
Infantile neuroaxonal dystrophy