Spastic paraplegia 4, autosomal dominant: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles. The severity of the condition is very variable as is the age of onset.
Spastic paraplegia 6, autosomal dominant: A rare genetic disorder characterized by progressive leg spasticity and weakness.
Spastic paraplegia 9, autosomal dominant: A rare disorder characterized by muscle wasting and weakness mainly in the legs, short stature, skeletal abnormalities and cataracts.
Spastic paraplegia - neuropathy - poikiloderma: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs, peripheral nerve degeneration and a skin disorder called poikiloderma. The eyelashes and eyebrows are usually gone by the age of three.
Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 2 can occur in either the pure or complex form
Spastic paraplegia type 5A, recessive: A rare disorder characterized mainly by progressive stiffness and weakness of lower leg muscles. Bladder and speech problems are also usually present.
Spastic paraplegia type 5B, recessive: An extremely rare form of lower leg spasticity and weakness.
Spastic paraplegia with Kallmann syndrome: A very rare genetic disorder characterized mainly by mild spasticity and weakness of the lower legs as well as lack of sex hormone production and an inability to smell.
Spastic paraplegia glaucoma precocious puberty: A rare syndrome characterized by premature puberty, mental retardation, glaucoma and progressive spastic paraplegia.
Spastic paresis - glaucoma - mental retardation: A very rare syndrome characterized by progressive stiffness and weakness of the legs, glaucoma and mental retardation.
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