These paravertebral muscles have a great influence over the walking stance and gait of a patient, so fatty infiltration and degradation of these muscle lead to the characteristics that easily define BSS, such as the anterior flexion of the back combined with an ability to keep upright with any kind of support (e.g., holding onto a table).Secondary BSS can have a multitude of causes, making it hard to pinpoint to a specific muscular disorder. Some examples of diseases that have secondary BSS as a symptom are myopathies caused by muscular dystrophies, neuromuscular disorders, and inflammatory muscle diseases; metabolic or endocrine disorders; and mitochondrial myopathies. A muscle biopsy can clearly demonstrate whether primary BSS or secondary BSS is affecting a patient, because primary BSS is much more identifiable. Neurological origin
A multitude of neurological disorders cause BSS, including motor neuron disease, CNS disorders, and early amyotrophic lateral sclerosis. Usually, the bent spine is caused by dysfunctioning extensor spinal muscles with a neurological cause. Neurological origin BSS may also result from damage to the basal ganglia nuclei that are a part of the cerebral cortex, which play a major role in bodily positioning. Damage to this part of the brain can inhibit proper flexion and extension in the muscles necessary for maintaining an upright position. Additionally, the neurotransmitter dopamine plays a key role in the operation of basal ganglia. An abnormally low dopamine concentration, such as that associated with Parkinsons disease, causes dysfunction in the basal ganglia and the associated muscle groups, leading to BSS.
Warsaw breakage syndrome is a rare genetic condition. Fewer than 10 cases have been reported by 2018. Its clinical manifestations affect several organ systems. Presentation
These include
Severe pre- and postnatal growth retardation
Microcephaly
Intellectual disability
Dysmorphic features
Small and elongated face
Narrow bifrontal diameter
Prominent cheeks
Small nares
Flat philtrum
Relatively large mouth
Bilateral epicanthal folds
High arched palate
Microretrognathism
Coloboma of the optic disc
Strabismus
Cup-shaped ears
Sensorineural deafness
Short neck
Jugular hypoplasia
Cardiac features
Ventricular septal defect
Tetralogy of Fallot
Sketelal features
Clinodactyly of the fifth fingers
Syndactyly of the second and third toes
Small thumbs
Small fibulae
Others
Abnormal skin pigmentation
Single palmar crease

Genetics
This condition is caused by mutations in the DDX11 gene which is located on the short arm of chromosome 12 (12p11). This gene encodes an iron-sulfur containing DNA helicase that belongs to the superfamily 2 of helicases. This protein interacts with the 9-1-1 checkpoint complex protein.The inheritance pattern is not yet clear. Diagnosis
The diagnosis may be suspected on clinical grounds and can be confirmed by sequencing the DDX11 gene. Differential diagnosis
The DDX should be based on the following:
Bloom syndrome
Cornelia de Lange syndrome
Fanconi anemia
Nijmegen breakage syndrome
Roberts syndrome
Xeroderma pigmentosum

Treatment
There is no known curative treatment for this condition presently. Management is supportive. History
This condition was first described in 2010. == References ==