Diseases

spinocerebellar ataxia type 37

Spinocerebellar ataxia type 37 (SCA37) is characterized by adult onset, dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements (dysmetric vertical saccades, irregular and slow vertical smooth pursuit, slow vertical optokinetic nystagmus, and oscillopsia (visual disturbance in which objects appear to oscillate). In most individuals, the initial signs/symptoms include falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. A distinctive clinical feature is the presence of altered vertical eye movements in early stages of the disease, even preceding ataxia symptoms. Clinical progression is slow and affected individuals usually become wheelchair bound between ten and 33 years after disease onset.

Spinocerebellar ataxia- autosomal recessive 1

Spinocerebellar ataxia, autosomal recessive 1: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.

Spinocerebellar ataxia- autosomal recessive 3

Spinocerebellar ataxia, autosomal recessive 3: A rare neurological disorder caused by a genetic defect (chromosome 6p21, recessive) and resulting in ataxia and loss of vision and hearing.

Spinocerebellar ataxia- autosomal recessive 4

Spinocerebellar ataxia, autosomal recessive 4: A rare neurological disorder caused by a genetic defect (chromosome 1p36, recessive) and resulting in ataxia and eye movement problems.

Spinocerebellar ataxia- autosomal recessive 5

Spinocerebellar ataxia, autosomal recessive 5: A rare neurological disorder caused by a genetic defect (chromosome 15q24-q26, recessive) and resulting in ataxia, mental problems and a skin disorder. Symptoms start during infancy and more than half of the patients never gain the ability to walk.

Spinocerebellar ataxia- X-linked- 3

Spinocerebellar ataxia, X-linked, 3: A rare neurological disorder involving mainly ataxia and deafness which starts during infancy and progresses quite rapidly to result in childhood death.

Spinocerebellar ataxia- X-linked- 4

Spinocerebellar ataxia, X-linked, 4: A rare neurological disorder involving mainly ataxia and dementia which starts during adulthood. The condition is slowly progressive.

Spinocerebellar degenerescence book type

Spinocerebellar degenerescence, book type: A very rare syndrome characterized by movement problems and mental retardation that originates from a brain defect.

Spirochetes disease

Spirochetes disease: Infection with a type of bacteria which is often found in mud, sewage and polluted water. Symptoms are determined by the species involved. Diseases caused by this bacteria include Treponema infection and borreliosis.

Spirurida Infections

Spirurida Infections: Infection with a nematode (worm) from the spirurida order. Nematodes from this order include Loa eyeworm, wuchereria and mansonella. The symptoms are determined by which species is involved. Some cases can result in severe complication if the nematode invades and organ or compresses vital nerves or blood vessels.

Splenic infarcts

Splenic infarcts: A rare condition were blood flow to a part of the spleen is interrupted by such things as blood clots and causes some of the spleen tissue to die. Symptoms depend on the amount of damage to the spleen.

Splenomegaly

Splenomegaly is an enlargement of the spleen beyond its normal size.

Split hand/foot malformation X-linked

Split hand/foot malformation X-linked: A rare genetic condition characterized by missing or underdeveloped bones in the hands and feet giving them a split appearance. The deformity is inherited in a X-linked manner.

Split-hand deformity

Split-hand deformity: A rare genetic disorder where fingers or parts of fingers are missing. It is usually associated with a cleft of the hand which gives the hand a claw-like appearance.

Spondylarthritis

Spondylitis (also called spondyloarthropathy, or Spondyloarthritis) is the name for a family of inflammatory rheumatic diseases that cause arthritis. The most common is ankylosing spondylitis, which affects mainly the spine. Others include:

- axial spondyloarthritis, which affects mainly the spine and pelvic joints;

Within axial SpA there are 2 groups:

- Ankylosing Spondylitis (AS): Where the x-ray changes are clearly present.

- Non-radiographic axial spondyloarthritis (nr-axSpA): Where x-ray changes are not present but you have symptoms.

Up to 70% of people in this group have visible inflammation in the sacroiliac joints and/or the spine when an MRI of the back is done.

30% of people in this group may not have any change visible on the MRI despite symptoms of back pain. In fact some of these patients may never show any inflammation on an MRI even if this is repeated later on in life. The reasons for this are still not well understood but may be due to how sensitive our methods to image the joints are.

- peripheral spondyloarthritis, affecting mostly the arms and legs;

- reactive arthritis (formerly known as Reiter's syndrome);

- psoriatic arthritis;

- enteropathic arthritis/spondylitis associated with inflammatory bowel diseases (ulcerative colitis and Crohn's disease).

 

Spondylo costal dysostosis dandy walker

Spondylo costal dysostosis dandy walker (medical condition): A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).

Spondylocamptodactyly

Spondylo camptodactyly syndrome: A very rare syndrome characterized by a finger abnormality, curved spine and flat neck vertabrae.

Spondylocarpotarsal synostosis

Spondylocarpotarsal synostosis: A rare genetic disorder characterized by short stature, fusion of toe and finger bones and failure of spinal segmentation.

Spondylocostal dysostosis- autosomal recessive

Spondylocostal dysostosis, autosomal recessive: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.