Since the underlying genetic cause of SMA was identified in 1995, several therapeutic approaches have been proposed and investigated that primarily focus on increasing the availability of SMN protein in motor neurons. The main research directions are as follows:

Nusinersen (trade name: Spinraza) is the only approved drug to treat spinal muscular atrophy. It is a 2’-O-methoxyethyl, phosphorothioate modified antisense oligonucleotide targeting intronic splicing silencer N1 which is administered directly to the central nervous system using an intrathecal injection. Developed by Ionis Pharmaceuticals and licensed to Biogen, nusinersen was approved by FDA in December 2016, becoming the first approved pharmacological treatment for SMA. It was approved by the European Commission in centralised procedure in June 2017.

In 1991 the FSH Society was founded by two individuals with FSHD, Daniel Perez and Stephen Jacobsen. The FSH Society raised funding to provide seed grants for FSHD research, advocated for the field to standardize the name of the disease as "facioscapulohumeral muscular dystrophy" and "FSHD", and co-wrote the MD-CARE Act, passed into law in 2001, which for the first time mandated federal resources, including National Institutes of Health funding, for all muscular dystrophies. The FSH Society has grown into the world's largest grassroots organization advocating for patient education and scientific and medical research.

In 2007 the FSHD Global Research Foundation was established to increase the amount of funding available to research bodies. The Foundation has identified 13 priority areas of interest for FSHD research.

Massage therapy using trigger-point release techniques may be effective in short-term pain relief. Physical therapy involving gentle stretching and exercise is useful for recovering full range of motion and motor coordination. Once the trigger points are gone, muscle strengthening exercise can begin, supporting long-term health of the local muscle system.

Myofascial release, which involves gentle fascia manipulation and massage, may improve or remediate the condition.

A systematic review concluded that dry needling for the treatment of myofascial pain syndrome in the lower back appeared to be a useful adjunct to standard therapies, but that clear recommendations could not be made because the published studies were small and of low quality.

Posture evaluation and ergonomics may provide significant relief in the early stages of treatment. Movement therapies such as Alexander Technique and Feldenkrais Method may also be helpful.

Gentle, sustained stretching exercises within a comfortable range of motion have been shown to decrease pain thresholds. Regular, non-intense activity is also encouraged.

There is no cure or approved treatment for FOP. Attempts to surgically remove the bone result in explosive bone growth. While under anesthesia, people with FOP may encounter difficulties with intubation, restrictive pulmonary disease, and changes in the electrical conduction system of the heart. Activities that increase the risk of falling or soft tissue injury should be avoided, as even minor trauma may provoke heterotopic bone formation.

The causes of MPS are not fully documented or understood. At least one study rules out trigger points: "The theory of myofascial pain syndrome (MPS) caused by trigger points (TrPs) ... has been refuted. This is not to deny the existence of the clinical phenomena themselves, for which scientifically sound and logically plausible explanations based on known neurophysiological phenomena can be advanced." Some systemic diseases, such as connective tissue disease, can cause MPS. Poor posture and emotional disturbance might also instigate or contribute to MPS.

Binswanger's disease has no cure and has been shown to be the most severe impairment of all of the vascular dementias. The best way to manage the vascular risk factors that contribute to poor perfusion in the brain is to treat the cause, such as chronic hypertension or diabetes. It has been shown that current Alzheimer’s medication, donepezil (trade name Aricept), may help Binswanger’s Disease patients as well . Donepezil increases the acetylcholine in the brain through a choline esterase inhibitor which deactivates the enzyme that breaks down acetylcholine. Alzheimer as well as Binswanger patients have low levels of acetylcholine and this helps to restore the normal levels of neurotransmitters in the brain. This drug may improve memory, awareness, and the ability to function. If no medical interception of the disease is performed then the disease will continue to worsen as the patient ages due to the continuing atrophy of the white matter from whatever was its original cause.

Clinical trials of isotretinoin, etidronate with oral corticosteroids, and perhexiline maleate have failed to demonstrate effectiveness, though the variable course of the disease and small prevalence induces uncertainty.

A handful of pharmaceutical companies focused on rare disease are currently in varying stages of investigation into different therapeutic approaches for FOP.

In August 2015, U.S. Food and Drug Administration (FDA) Office of Orphan Products Development granted La Jolla Pharmaceuticals orphan drug designation for two novel compounds for FOP. The compounds are small-molecule kinase inhibitors designed to selectively block ACVR1 (ALK2).

In August 2015, Clementia Pharmaceuticals also began the enrollment of children (ages 6 and above) into its Phase II clinical trial investigating palovarotene for the treatment of FOP. Preclinical studies demonstrated that palovarotene, a retinoic acid receptor gamma agonist, blocked abnormal bone formation in animal models via inhibition of secondary messenger systems in the BMP pathway. Clementia licensed palovarotene from Roche Pharmaceuticals, which previously evaluated the compound in more than 800 individuals including healthy volunteers and patients with chronic obstructive pulmonary disease. Palovarotene received Fast Track designation from the U.S. Food and Drug Administration (FDA) and orphan designations for the treatment of FOP from both the FDA and the European Medicines Agency (EMA).

In September 2015, Regeneron announced new insight into the mechanism of disease involving the activation of the ACVR1 receptor by activin A. In 2016, the company initiated a phase 1 study of its activin antibody, REGN 2477, in healthy volunteers; a phase 2 trial in FOP patients is planned for 2017.

Another potential therapeutic approach involves allele-specific RNA interference that targets mutated mRNA for degradation while preserving normal ACVR1 gene expression.

Further investigation into the mechanisms of heterotopic bone formation in FOP could aid in the development of treatments for other disorders involving extra-skeletal bone formation.

There is no known curative treatment presently. Hearing aids and cataract surgery may be of use. Control of seizures, heart failure and treatment of infection is important. Tube feeding may be needed.

Binswanger's disease, also known as subcortical leukoencephalopathy, is a form of small vessel vascular dementia caused by damage to the white brain matter. White matter atrophy can be caused by many circumstances including chronic hypertension as well as old age. This disease is characterized by loss of memory and intellectual function and by changes in mood. These changes encompass what are known as executive functions of the brain. It usually presents between 54 and 66 years of age, and the first symptoms are usually mental deterioration or stroke.

It was described by Otto Binswanger in 1894, and Alois Alzheimer first used the phrase "Binswanger's disease" in 1902. However, Olszewski is credited with much of the modern-day investigation of this disease which began in 1962.

Catalepsy is a symptom of certain nervous disorders or conditions such as Parkinson's disease and epilepsy. It is also a characteristic symptom of cocaine withdrawal, as well as one of the features of catatonia. It can be caused by schizophrenia treatment with anti-psychotics, such as haloperidol, and by the anesthetic ketamine. Protein kinase A has been suggested as a mediator of cataleptic behavior.

Arthritis mutilans' parent condition psoriatic arthritis leaves people with a mortality risk 60% higher than the general population, with premature death causes mirroring those of the general population, cardiovascular issues being most common. Life expectancy for people with psoriatic arthritis is estimated to be reduced by approximately 3 years.

Although a 2011 research article stated that disagreements between hand surgeons and rheumatologists remain regarding the indications, timing and effectiveness of rheumatoid hand surgery, arthritis mutilans may be successfully treated by iliac-bone graft and arthrodesis of the interphalangeal joints and the metacarpophalangeal joint in each finger.

The Gosselin fracture is a V-shaped fracture of the distal tibia which extends into the ankle joint and fractures the tibial plafond into anterior and posterior fragments.

The fracture was described by Leon Athanese Gosselin, chief of surgery at the Hôpital de la Charité in Paris.

Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency, and recurrent severe infections. To date about 50 cases have been reported.

Recent research suggests that sulfur amino acids have a protective effect against the toxicity of ODAP.

Eating the chickling pea with grain having high concentrations of sulphur-based amino acids reduces the risk of lathyrism if grain is available. Food preparation is also an important factor. Toxic amino acids are readily soluble in water and can be leached. Bacterial (lactic acid) and fungal (tempeh) fermentation is useful to reduce ODAP content. Moist heat (boiling, steaming) denatures protease inhibitors which otherwise add to the toxic effect of raw grasspea through depletion of protective sulfur amino acids. During times of drought and famine, water for steeping and fuel for boiling is frequently also in short supply. Poor people sometimes know how to reduce the chance of developing lathyrism but face a choice between risking lathyrism or starvation.

The underlying cause for excessive consumption of grasspea is a lack of alternative food sources. This is a consequence of poverty and political conflict. The prevention of lathyrism is therefore a socio-economic challenge.

The cause of Jumping Frenchmen syndrome is unknown. One theory is that it is a genetic condition. Observation of 50 cases found the disorder to be remotely located and concentrated in the northern regions of Maine. Fourteen of these cases were found in four families. Another set of cases were found in a single family where the father, his two sons, and his two grandchildren exhibited "jumping" behavior.

It may also be a culture-bound syndrome or a formed habit. These French "jumpers" lived in a very remote region and most were lumberjacks. This type of small community would allow for a majority to adapt to this sort of reaction. Also, instances of many being shy may imply that the "jumper" was positively reinforced by the sudden attention as the entertainment for a group.

In 1885, Georges Gilles de la Tourette included Jumping Frenchmen syndrome in the typology of "convulsive tic illness"; studies of the condition in the 1980s cast doubt on whether the phenomenon was in fact a physical condition similar to Tourette syndrome. Documentation of direct observation of "Jumping Frenchmen" has been scarce, and while videotape evidence was recorded by several researchers that showed the condition to be real, MH and JM Saint-Hilaire concluded from studying eight affected people that it was brought on by conditions at their lumber camps and was psychological, not neurological.

The toxicological cause of the disease has been attributed to the neurotoxin ODAP which acts as a structural analogue of the neurotransmitter glutamate. Ingestion of legumes containing the toxin occurs, although knowledge of how to detoxify Lathyrus is present, but drought conditions can lead to fuel and water shortages preventing the necessary steps from being taken, particularly in impoverished countries. Lathyrism usually occurs where the despair of poverty and malnutrition leaves few other food options. Lathyrism can also be caused by food adulteration.

The Jumping Frenchmen of Maine were a group of 19th-century lumberjacks who exhibited a rare disorder of unknown origin. The syndrome entails an exaggerated startle reflex which may be described as an uncontrollable "jump"; individuals with this condition can exhibit sudden movements in all parts of the body. Jumping Frenchmen syndrome shares some symptoms with other startle disorders.

Individuals with this condition were first found in the Moosehead Lake region of Maine, and were first described by George Miller Beard in 1878.

There are too few cases of fibrinogen storage disease to establish optimal treatments for the liver diseases. Management of the disorder has been based on general recommendations for patients with liver disease, particularly Alpha 1 antitrypsin deficiency-associated liver disease. In the latter disease, autophagy, the pathway that cells use to dispose of dysfunctional or excessively stored components including proteins, has been targeted using autophagy-enhancing drugs, e.g. carbamazepine, vitamin E, and ursodeoxycholic acid. These drugs have been tested in individual patients with fibrin storage disease with some success in reducing evidence of liver injure, i.e. reduction in blood liver enzyme levels. These and other autophagy-enhancing drugs are suggested to be further studied in fibrinogen storage disease.

Antiepileptic drugs (AEDs) are used in most cases to control seizures, however, PCDH19 gene-related epilepsy is generally associated with early-onset development of drug resistant seizures. Existing data supports the use of “rational polypharmacy,” which consists of a step-wise addition of AEDs until a patient responds favorably or experiences intolerable adverse events. In general, as in other types of uncontrolled epilepsy, the use of drugs with different mechanisms of action appears to be more effective than combining drugs with similar mechanisms of action.

No currently marketed AEDs have been extensively studied in PCDH19 gene-related epilepsy and there is no established treatment strategy for girls diagnosed with PCDH19 gene-related epilepsy. Patients may respond well to treatment with levetiracetam and in cases of drug resistance, stiripentol, which is not approved in the U.S. but is available through the FDA Expanded Access IND process.

Symptoms include: rigid body, rigid limbs, limbs staying in same position when moved (waxy flexibility), no response, loss of muscle control, and slowing down of bodily functions, such as breathing.

At the hospital, physicians follow standard protocol for managing seizures. Cluster seizures are generally controlled by benzodiazepines such as diazepam, midazolam, lorazepam or clonazepam. The use of oxygen is recommended in the United States, but in Europe it is only recommended in cases of prolonged epileptic status.

Lucio's phenomenon is treated by anti-leprosy therapy (dapsone, rifampin, and clofazimine), optimal wound care, and treatment for bacteremia including antibiotics. In severe cases exchange transfusion may be helpful.