Spastic quadriplegia - retinitis pigmentosa - mental retardation: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs and arms, eye problems and mental retardation. The spastic paraplegia is not progressive.
Spasticity - mental retardation - epilepsy, X-linked: A rare syndrome characterized by epilepsy, spasticity and mental retardation. The disorder is inherited in a X-linked manner and thus only males present with symptoms though female carriers may have some mild symptoms such as hyperreflexia.
Spasticity - multiple exostoses: A very rare syndrome characterized by stiff legs and numerous bone outgrowths.
Spermatogenesis arrest is a complex process of interruption in the differentiation of germinal cells of specific cellular type, which elicits an altered spermatozoa formation. Spermatogenic arrest is usually due to genetic factors resulting in irreversible azoospermia. However some cases may be consecutive to hormonal, thermic, or toxic factors and may be reversible either spontaneously or after a specific treatment
Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells (RBCs), or erythrocytes, that are sphere-shaped, rather than bi-concave disk shaped. It is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, including, spectrin, ankyrin, Band 3, or Protein 4.2. Because the cell skeleton has a defect, the blood cell contracts to its most surface-tension efficient and least flexible configuration, a sphere. The sphere-shaped red blood cells are known as spherocytes
Spheroid body myopathy: A slow developing muscle disorder which usually starts during adolescence and causes loss of movement ability.
Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
Batten disease is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood. Also known as Spielmeyer-Vogt-Sjögren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs)
NCLs are characterized by an abnormal accumulation of lipopigaments, which are substances combined from fats and proteins within the brain’s nerve cells, eyes, skin, muscle, and within other tissues throughout the body.
Spina bifida (Latin: "split spine") is a birth defect where there is incomplete closing of the backbone and membranes around the spinal cord. There are three main types: spina bifida occulta, meningocele, and myelomeningocele. The most common location is the lower back but rarely they may occur in the middle back or neck. Occulta has no or only mild signs. Signs of occulta may include a hairy patch, dimple, dark spot, or swelling on the back at the site of the gap in the spine. Meningocele typically causes mild problems with a sac of fluid present at the gap in the spine. Myelomeningocele, also known as open spina bifida, is the most severe form. Associated problems include poor ability to walk, problems with bladder or bowel control, hydrocephalus, a tethered spinal cord, and latex allergy. Learning problems are relatively uncommon.
Hypospadias: Congenital defect with misplaced urinary opening
Spinal and bulbar muscular atrophy (SBMA) is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord.
The condition is associated with mutation of the androgen receptor (AR) gene and is inherited in an X-linked recessive manner. As with many genetic disorders, no cure is known, although research continues. Because of its endocrine manifestations related to the impairment of the AR gene, SBMA can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS). It is also related to other neurodegenerative diseases caused by similar mutations, such as Huntington's disease.
This condition is rare with an estimated incidence of 1/40,000 males. Although this condition is not normally fatal eventually 20% of those affected may need a wheelchair
Spinal atrophy - ophthalmoplegia - pyramidal syndrome: A very rare syndrome characterized by weak eye muscles, progressive spinal cord deterioration resulting in muscle weakness and wasting.
Kennedy's disease (KD) or X-linked spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease associated with mutation of the androgen receptor (AR).[1][2] Because of its endocrine manifestations related to the impairment of the AR, it can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS). It is also related to other neurodegenerative diseases caused by similar mutations, such as Huntington's disease and the spinocerebellar ataxias. Kennedy's disease is named after W. R. Kennedy, a neurologist who was among the first to describe this disease
Spinal cord neoplasm: A growth (tumor) that arises from the spinal cord. The tumor may be benign or malignant.
Spinal dysostosis, type Anhalt: A very rare syndrome characterized by various spinal abnormalities.
Spinal intradural arachnoid cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord. The type and severity of symptoms is determined by the size and location of the cyst.
Spinal muscular atrophy (SMA), also called autosomal recessive proximal spinal muscular atrophy in order to distinguish it from other conditions with similar name – is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death.
The disorder is caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryotic cells and necessary for survival of motor neurons. Lower levels of the protein results in loss of function of neuronal cells in the anterior horn of the spinal cord and subsequent system-wide muscle wasting (atrophy).
Spinal muscular atrophy manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. The severity of SMA correlates with the amount of SMN protein. People with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and do not achieve the ability to sit without support or live beyond 2 years without respiratory support. People with Type 2 and Type 3 produce greater amounts of SMN protein and have less severe, but still life-altering forms of SMA.
Spinal muscular atrophy is an inherited disorder and is passed on in an autosomal recessive manner.
As of 2016, no drugs for SMA have been approved, even as a number of therapeutics remain in late-stage clinical trials.
a genetic disease in which loss of nerve cells in the spinal cord called motor neurons affects the part of the nervous system that controls voluntary muscle movement.
Spinal muscular atrophy, type I, with congenital bone fractures: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants.
Spinal muscular atrophy with respiratory distress 1: An inherited neuromuscular disease that causes progressive weakness in the arm and chest muscles leading to severe respiratory problems early in life. Sufferers are never able to sit independently and breathing problems progress rapidly with breathing assistance needed within the first five years.
Spinal muscular atrophy, Ryukyuan type: A recessively inherited disorder occurring in males from a Japanese inhabitants of Ryukyu Islands. The disorder is characterized by muscle wasting and weakness that affects the lower legs more than the arms.
This is the mildest form of child onset SMA. People with Type III will vary greatly. However the prognosis is very good. The person with Type III may show difficulty with walking and/or getting up from a sitting or bent over position & negotiating stairs. Balance can be a problem, causing falls, sometimes assistance in getting up is needed. General muscle weakness has an impact on daily living. An assessment may be helpful to identify where the person needs additional aids or adaptations to enable them to live as independently as possible. Children with SMA have enhanced intelligence and usually attend main stream school.
Spinal shock was first defined by Whytt in 1750 as a loss of sensation accompanied by motor paralysis with initial loss but gradual recovery of reflexes, following a spinal cord injury (SCI) -- most often a complete transection. Reflexes in the spinal cord caudal to the SCI are depressed (hyporeflexia) or absent (areflexia), while those rostral to the SCI remain unaffected. Note that the 'shock' in spinal shock does not refer to circulatory collapse
Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. types of Spinocerebellar ataxia. The first ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Usually, the "type" number of SCA refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations which have been found.
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is cased by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known mutations in this gene causative for SCA13. Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with no current or altered kinetics
Spinocerebellar ataxia 14: A rare genetic disorder (chromosome 19q13.4qter defect) characterized by gait ataxia, tremors and dysarthria (speech disorder). The condition progresses slowly.