Scoliosis: Causes

Pathogenesis (development of disease)

Scoliosis is a lateral curvature of the spine caused by asymmetry of the individual components of the spine. In addition to this, the vertebral bodies are twisted. In extreme cases, the function of internal organs may be impaired. Scoliosis can be subclassified by cause:

  • Idiopathic scoliosis (approximately 85% of all structural scolioses; onset in childhood and adolescence/adolescence) – the younger the patient (skeletal age) and the higher the major curve, the greater the risk of progression (danger of progression)
  • Degenerative scoliosis: wear-related changes in the motion segments of the spine (“de novo” scolioses).
  • Fibropathic scoliosis: Marfan syndrome; pleural scarring (thickening of the pleura), scar contractures; posttraumatic; condition n. thoracoplasty (reshaping of the thorax/chest by surgical removal of one or more ribs).
  • Myopathic scoliosis as a cause of primary muscle disease (spinal muscular dystrophy); congenital msukel defects.
  • Neuropathic scoliosis (neurogenic scoliosis): e.g., spinal muscular atrophy (muscle atrophy caused by progressive loss of motor neurons in the anterior horn of the spinal cord; usually leads to thoracic scoliosis), poliomyelitis (polio), spasticity, cerebral palsy (movement disorders caused by early childhood brain damage)
  • Osteochondropathic scoliosis; occurrence in:
    • Congenital (congenital) malformations (congenital scoliosis, malformational scoliosis): e.g., Klippel-Feil syndrome.
    • Ossification disorders/dysostosis (bone formation disorder).
    • Vertebral deformities due to inflammation, osteoporosis (bone loss), trauma (injury, accident), tumor.
  • Osteopathic or osteogenic scoliosis; Occurrence in:
    • Congenital (congenital) or acquired spinal deformities including diastomatomyelia (see below) and myelodysplasia (malformation of the bone or spinal cord).
    • Diseases with systemic skeletal diseases
    • Vertebral and rib abnormalities
  • Post-traumatic scoliosis: after trauma (accident involving violence), amputation or tumor surgery in the spine.
  • Pain scoliosis: eg, herniated disc (BSP, herniated disc).
  • Syndromal scolioses: scolioses in the context of syndromes and systemic diseases.
  • Systemic disease-related scolioses: e.g. achondroplasia, Marfan syndrome, neurofibromatosis, osteogenesis imperfecta.
  • Static scoliosis: e.g. leg length discrepancy (mostly due toleg shortening).

Etiology (causes)

Biographical causes

  • Genetic burden from parents, grandparents (see below); adolescent scoliosis: approximately 30% of all patients have a family history of scoliosis
    • Genetic diseases
      • Arnold-Chiari syndrome, type I – group of developmental disorders with displacement of cerebellar parts through the foramen magnum (occipital hole) with concomitant reduced posterior fossa into the spinal canal (vertebral canal); type 1: Here, there is displacement of the cerebellar tonsils (part of the cerebellum; belong to the neocerebellum, which makes up most of the cerebellum). As a complication, syringomyelia (cavity formation in the gray matter of the spinal cord) may occur. Causes: heterogeneous, mostly unknown, autosomal recessive? ; polygenic causes with involvement of endogenous-teratogenic factors are discussed.
      • Arthrogryposis multiplex congenita (AMC) – congenital joint stiffness (dysmorphia); this term includes several genetic disorders characterized by joint dislocations and stiffening; inheritance autosomal recessive.
      • Ehlers-Danlos syndrome (EDS) – genetic disorders that are both autosomal dominant and autosomal recessive; heterogeneous group caused by a disorder of collagen synthesis; characterized by increased elasticity of the skin and unusual tearability of the same (habitus of the “rubber man”)
      • Fibrodysplasia ossificans progressiva (FOP; synonyms: Fibrodysplasia ossificans multiplex progressiva, Myositis ossificans progressiva, Münchmeyer syndrome) – genetic disease with autosomal dominant inheritance; describes the pathological, progressive ossification (ossification) of the connective and supporting tissues of the human body, which leads to an ossification of the musculature; already at birth, shortened and twisted big toes are present as a non-specific symptom.
      • Friedreich’s ataxia (FA; Friedreich’s disease) – genetic disease with autosomal recessive inheritance; degenerative disease of the central nervous system, which leads, among other things, to the disturbance of movement patterns; most common hereditary form of ataxia (movement disorder); disease generally sets in childhood or early adulthood.
      • Homocystinuria – collective name for a group of autosomal recessive hereditary metabolic disorders that result in increased concentrations of the amino acid homocysteine in the blood and homocystine in the urine, leading to symptoms similar to Marfan syndrome.
      • Infantile spinal paralysis Werdnig-Hoffmann (SMA type I) – genetic disease leading to muscle wasting; free sitting is by definition never learned; disease begins in utero or during the first 3 months of life; death usually occurs in the first 2 years of life due to respiratory failure or infection
      • Klinefelter syndrome – genetic disease with mostly sporadic inheritance: numerical chromosomal aberration (aneuploidy) of the sex chromosomes (gonosomal abnormality), which occurs only in boys or Men occurs; in the majority of cases characterized by a supernumerary X chromosome (47, XXY); clinical picture: large stature and testicular hypoplasia (small testis), caused by hypogonadotropic hypogonadism (gonadal hypofunction); usually spontaneous onset of puberty, but poor pubertal progress.
      • Marfan syndrome – genetic disease that can be inherited both autosomal dominant or occur sporadically (as a new mutation); systemic connective tissue disease, which is notable mainly by tall stature, spider limbs and hyperextensibility of the joints; 75% of these patients have an aneurysm (pathological (pathological) bulge of the arterial wall).
      • Neurofibromatosis – genetic disease with autosomal dominant inheritance; belongs to the phakomatoses (diseases of the skin and nervous system); three genetically different forms are distinguished:
        • Neurofibromatosis type 1 (von Recklinghausen’s disease) – patients form multiple neurofibromas (nerve tumors) during puberty, often occurring in the skin but also occurring in the nervous system, orbita (eye socket), gastrointestinal tract (gastrointestinal tract), and retroperitoneum (space located behind the peritoneum on the back toward the spine)
        • [Neurofibromatosis type 2 – characterized by bilateral (bilateral) acoustic neuroma (vestibular schwannoma) and multiple meningiomas (meningeal tumors).
        • Schwannomatosis – hereditary tumor syndrome]
      • Osteogenesis imperfecta (OI) – genetic disorders with autosomal dominant inheritance, less commonly autosomal recessive inheritance; 7 types of osteogenesis imperfecta are differentiated; main feature of OI type I is altered collagen, resulting in abnormally high bone fragility (brittle bone disease).
      • Trisomy 21 (Down syndrome) – genetic disorder that usually occurs sporadically; gonosomal genomic mutation or gonosomal monosomy, which occurs only in women and girls and in which they have only one X chromosome instead of two; in addition to physical features considered typical for this syndrome, the cognitive abilities of the affected person are usually impaired
      • Turner syndrome (synonyms: Ullrich-Turner syndrome, UTS) – genetic disorder that usually occurs sporadically; girls / women with this particularity have only one functional X chromosome instead of the usual two (monosomy X); inter alia. Among other things, with an anomaly of the aortic valve (33% of these patients have an aneurysm/diseased bulging of an artery); it is the only viable monosomy in humans and occurs approximately once in 2,500 female newborns.
  • Age – increasing age (adult scoliosis).
  • Body size – positively associated with severity of spinal deformities.

Behavioral causes

  • Below-average BMI (body mass index; also body mass index (BMI) is associated with severe spinal deformities

Disease-related disorders

  • Adolescent scoliosis – adult-onset scoliosis.
  • Diastematomyelia – group of congenital (congenital) malformations of the skull, spine, and spinal cord in which the neural plate of the embryo does not close into a tube as usual, but remains more or less open until birth; sporadic occurrence.
  • Embryopathies of all kinds
  • Fetopathies of all kinds
  • Infantile scoliosis – scoliosis occurring in children.
  • Infantile spinal paralysis Werdnig-Hoffmann – genetic disease that leads to muscle atrophy.
  • Juvenile scoliosis – scoliosis occurring in adolescents.
  • Klippel-Feil syndrome (synonym: congenital cervical synostosis ) – rare congenital syndrome from a malformation of the cervical spine and possible other malformations.
  • Myelomeningocele – protrusion of a section of the spinal cord due to a defect in the spine.
  • Paresis (paralysis-related) scoliosis.
  • Poliomyelitis (polio)
  • Post-traumatic scoliosis
  • Infantile scoliosis (note: congenital scoliosis is diagnosed with urogenital (e.g., horseshoe kidney) findings in approximately 25% of cases and cardiac findings in 10%)
  • Spasticity
  • Syringomyelia – rare disease of the spinal cord; the disease may be due to a developmental disorder or may develop after an injury, tumor, or inflammation. It is found in the formation of cavities in the gray matter of the spinal cord, especially cervical and thoracic medulla.
  • Systemic diseases: e.g. achondroplasia, Marfan syndrome, neurofibromatosis, osteogenesis imperfecta.

Operations

  • Zust. n. Thoracoplasty (reshaping of the thorax/chest by surgical removal of one or more ribs).

Other causes

  • Trauma