The subtypes of congenital muscular dystrophy have been established through variations in multiple genes. It should be noted that phenotype, as well as, genotype classifications are used to establish the subtypes, in some literature.

One finds that congenital muscular dystrophies can be either autosomal dominant or autosomal recessive in terms of the inheritance pattern, though the latter is much more common

Individuals who suffer from congenital muscular dystrophy fall into one of the following "types":

For the diagnosis of congenital muscular dystrophy, the following tests/exams are done:

- Lab study (CK levels)

- MRI (of muscle, and/or brain)

- EMG

- Genetic testing

In terms of the diagnosis of Ullrich congenital muscular dystrophy upon inspection follicular hyperkeratosis, may be a dermatological indicator, additionally also serum creatine kinase may be mildly above normal. Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:

In terms of possible research for Ullrich congenital muscular dystrophy one source indicates that cyclosporine A might be of benefit to individuals with this CMD type.

According to a review by Bernardi, et al., cyclosporin A (CsA) used to treat collagen VI muscular dystrophies demonstrates a normalization of mitochondrial reaction to rotenone.

At present, Nemaline myopathy does not have a cure. Nemaline myopathy is a very rare disease that only effects 1 out of 50,000 on average, although recent studies show that this number is even smaller. There are a number of treatments to minimize the symptoms of the disease. The treatments and procedures to help patients with nemaline myopathy vary depending on the severity of the disease. A possible accommodation could be the use of a stabilizer, such as a brace. Other means include moderate stretching and moderate exercise to help target muscles maintain maximum health.

As people with NM grow and develop throughout their lives, it is important for them to see a variety of health professionals regularly, including a neurologist, physical therapist, and others, such as speech therapists and psychologists, to help both the patient and family adjust to everyday life.

New research resources have become available for the NM community, such as the CMDIR (registry) and the CMD-TR (biorepository). These two resources connect families and individuals interested in participating in research with the scientists that aim to treat or cure NM. Some research on NM seeks to better understand the molecular effects the gene mutations have on muscle cells and the rest of the body and to observe any connections NM may have to other diseases and health complications.

"In utero" sonographic diagnosis is possible when characteristic features such as bilateral bowed femurs and tibia, clubbed feet, prominent curvature of the neck, a bell-shaped chest, pelvic dilation, and/or an undersized jaw are apparent

Radiographic techniques are generally used only postnatally and also rely on prototypical physical characteristics.

Genetic screening is also typically done postnatally, including PCR typing of microsatellite DNA and STS markers as well as comparative genomic hybridization (CGH) studies using DNA microarrays.

In some cases PCR and sequencing of the entire "SOX9" gene is used to diagnose CMD.

Many different translocation breakpoints and related chromosomal aberrations in patients with CMD have been identified.

This not known with certainty but is estimated to be about one per million. It appears to be more common in females than males.

Familial partial lipodystrophy (FPL), also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.

FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat.

As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications.

Dubin–Johnson syndrome is similar to Rotor syndrome, but can be differentiated by:

Prognosis is good, and treatment of this syndrome is usually unnecessary. Most patients are asymptomatic and have normal lifespans. Some neonates present with cholestasis. Hormonal contraceptives and pregnancy may lead to overt jaundice and icterus (yellowing of the eyes and skin).

Persistently increased blood pressure may also be due to kidney disease or hyperthyroidism. When a cause is not readily apparent, and especially when hypokalemia is identified, hyperaldosteronism should be considered. Diagnostic imaging, usually beginning with abdominal ultrasound, may identify that one or both adrenal glands are enlarged. Imaging may also detect metastasis and usually includes radiographs of the chest in addition to abdominal ultrasound and/or computerized tomography (CT).

The ratio of plasma aldosterone concentration (PAC) to plasma renin activity (PRA) can be used as a screening test for PHA. In cats with unilateral or bilateral zona glomerulosa tumors, the PAC may be very high while the PRA is completely suppressed. In cats with idiopathic bilateral nodular hyperplasia of the zona glomerulosa, the PAC may be slightly elevated or high normal. In the presence of hypokalemia even a mildly elevated aldosterone should be considered inappropriately high. A high-normal or elevated PAC with a low PRA indicates persistent aldosterone synthesis in the presence of little or no stimulation of the renin-angiotensin system.

Various diagnostic systems have been described. Some consider the Research Diagnostic Criteria method the gold standard. Abbreviated to "RDC/TMD", this was first introduced in 1992 by Dworkin and LeResche in an attempt to classify temporomandibular disorders by etiology and apply universal standards for research into TMD. This method involves 2 diagnostic axes, namely axis I, the physical diagnosis, and axis II, the psychologic diagnosis. Axis I contains 3 different groups which can occur in combinations of 2 or all 3 groups, (see table).

McNeill 1997 described TMD diagnostic criteria as follows:

- Pain in muscles of mastication, the TMJ, or the periauricular area (around the ear), which is usually made worse by manipulation or function.

- Asymmetric mandibular movement with or without clicking.

- Limitation of mandibular movements.

- Pain present for a minimum of 3 months.

The International Headache Society's diagnostic criteria for "headache or facial pain attributed to temporomandibular joint disorder" is similar to the above:

- A. Recurrent pain in one or more regions of the head or face fulfilling criteria C and D

- B. X-ray, MRI or bone scintigraphy demonstrate TMJ disorder

- C. Evidence that pain can be attributed to the TMJ disorder, based on at least one of the following:

- pain is precipitated by jaw movements or chewing of hard or tough food

- reduced range of or irregular jaw opening

- noise from one or both TMJs during jaw movements

- tenderness of the joint capsule(s) of one or both TMJs

- D. Headache resolves within 3 months, and does not recur, after successful treatment of the TMJ disorder

Testing the general population under the age of 40 without symptoms is of unclear benefit.

It has been suggested that the natural history of TMD is benign and self-limiting, with symptoms slowly improving and resolving over time. The prognosis is therefore good. However, the persistent pain symptoms, psychological discomfort, physical disability and functional limitations may detriment quality of life. It has been suggested that TMD does not cause permanent damage and does not progress to arthritis in later life, however degenerative disorders of the TMJ such as osteoarthritis are included within the spectrum of TMDs in some classifications.

The treatment for diffuse distal conduction system disease is insertion of a pacemaker. If the PR prolongation is due to AV nodal disease, a case may be made for observation, as it may never progress to complete heart block with life threateningly low heart rates.

Regardless of where in the conduction system the block is, if the block is believed to be the cause of syncope in an individual, a pacemaker is an appropriate treatment.

If undiagnosed (or untreated), Stokes–Adams attacks have a 50% mortality within a year of the first episode. The prognosis following treatment is very good.

Primary hyperaldosteronism can be mimicked by Liddle syndrome, and by ingestion of licorice and other foods containing glycyrrhizin. In one case report, hypertension and quadriparesis resulted from intoxication with a non-alcoholic pastis (an anise-flavored aperitif containing glycyrrhizinic acid).

Initial treatment can be medical, involving the use of drugs like isoprenaline (Isuprel) and epinephrine (adrenaline). Definitive treatment is surgical, involving the insertion of a pacemaker – most likely one with sequential pacing such as a DDI mode as opposed to the older VVI mechanisms, and the doctor may arrange the patient to undergo electrocardiography to confirm this type of treatment.

Some people only use Conn's syndrome for when it occurs due to an adrenal adenoma (a type of benign tumor). In practice, however, the terms are often used interchangeably, regardless of the underlying physiology.

The diagnosis of whether the PR prolongation is due to AV nodal disease or diffuse conduction system disease is typically made by an electrophysiology study of the conduction system. In an electrophysiology study, trifascicular block due to AV nodal disease (true trifascicular block does not involve the AV node) block is represented by a prolonged AH interval (denoting prolonged time from impulse generation in the atria and conduction to the bundle of His) with a relatively preserved HV interval (denoting normal conduction from the bundle of His to the ventricles). Trifascicular block due to distal conduction system disease is represented by a normal AH interval and a prolonged HV interval.

Idiopathic hypouricemia usually requires no treatment. In some cases, hypouricemia is a medical sign of an underlying condition that does require treatment. For example, if hypouricemia reflects high excretion of uric acid into the urine (hyperuricosuria) with its risk of uric acid nephrolithiasis, the hyperuricosuria may require treatment.

When the cause of hypoglycemia is not obvious, the most valuable diagnostic information is obtained from a blood sample (a "critical specimen") drawn during the hypoglycemia. Detectable amounts of insulin are abnormal and indicate that hyperinsulinism is likely to be the cause. Other aspects of the person's metabolic state, especially low levels of free fatty acids, beta-hydroxybutyrate and ketones, and either high or low levels of C-peptide and proinsulin can provide confirmation.

Clinical features and circumstances can provide other indirect evidence of hyperinsulinism. For instance, babies with neonatal hyperinsulinism are often large for gestational age and may have other features such as enlarged heart and liver. Knowing that someone takes insulin or oral hypoglycemic agents for diabetes obviously makes insulin excess the presumptive cause of any hypoglycemia.

Most sulfonylureas and aspirin can be detected on a blood or urine drug screen tests, but insulin cannot. Endogenous and exogenous insulin can be distinguished by the presence or absence of C-peptide, a by-product of endogenous insulin secretion which is not present in pharmaceutical insulin. Some of the newer analog insulins are not measured by the usual insulin level assays.

Although normally benign, idiopathic renal hypouricemia may increase the risk of exercise-induced acute renal failure.