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Idiopathic scoliosis in adolescence (Janicki and Alman 2007)

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One of the common traits that underlies each of the diseases is scoliosis. While some diseases have this as a main symptom, other diseases (such as KSS), develop it later on. Scoliosis is a type of spinal deformity that is based off of lateral curvature and rotation of the vertebrae (Janicki and Alman 2007). There are many different causes of scoliosis (as displayed in the other panels), but they can be separated into the following categories: "congenital, neuromuscular, syndrome-related, idiopathic and spinal curvature due to secondary reasons (Janicki and Alman 2007)." The development of scoliosis from these genetic diseases would be considered secondary reasons; the disease develops from an overall muscle weakness and degradation that allows for curvature and rotation to take place since there is little healthy muscle to uphold structure and function in the spine.

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Edwards Syndrome is an aneuploidy that is expressed when an autosomal trisomy is present within chromosome 18. This is caused by nondisjunction, leading to an overexpression of the genes present on chromosome 18. Symptoms can include growth failure, open skull sutures at birth, high arched eyebrows, low set deformed ears, deformity of hips, abnormal kidneys, and scoliosis (Ries et al. 1990). Edwards Syndrome is seen more often in females than males. The live born prevalence rate was 1/8,600 in the United States (Cereda and Carey 2012). There is no cure for Edwards Syndrome, but there are treatment and surgery options to increase the quality of life. Options include placing a feeding tube, cardiac surgery, tracheostomy, use of hearing aids and glasses, therapy for muscle tone abnormalities, and surgery for scoliosis (Cereda and Carey 2012).

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Phenotypic map of chromosome 5p (Mainardi 2006)

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Cri-du-chat is a chromosome aberration that takes place when there is a deletion of a small terminal portion of the p arm of chromosome 5 (Mainardi 2006). Some specific genes such as SEMAF, CTNND2, and TERT are located on this region, and when they are deleted from the genome, cause the diseased state. The signs and symptoms of Cri-du-chat include high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, syndactyly, hypospadias, and scoliosis. The level of incidence ranges from 1/15,000 to 1/50,000 for live births. While there is no cure, rehabilitation options, such as physical therapy, psychomotricity, and speech therapy, can increase quality of life (Mainardi 2006).

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Kearns-Sayre Syndrome (KSS) is a mitochondrial disease that revolves around the rearrangement, meaning deletion, mutation, or duplication, of mtDNA (Shemesh and Margolin 2022). Most cases are from a spontaneous deletion of mtDNA, specifically "4977 bp deletion." The main signs and symptoms for the disease are complete heart block, cerebrospinal fluid (CSF) protein of more than 100 mg/dL, cerebellar ataxia, short stature, deafness, dementia, endocrine abnormalities, and scoliosis. While most of the symptoms have to do with the eyes and ocular function early on, as the disease progresses, the head and neck can weaken, which can progress to loss of motor functions (Kang  et al. 2017). Based on a Finnish demographic study, the rate of incidence is 1/100,000. While there is no cure, treatment options such as a folic acid supplement, cochlear implants, and strabismus and frontalis slings placement surgery can increase quality of life (Shemesh and Margolin 2022).

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Flowchart of DMD diagnosis (Falzarano et al. 2015)

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Duchenne Muscular Dystrophy (DMD) is a diseased state that involves the dystrophin gene on the X chromosome (Falzarano et al. 2015). Its specific location is Xp21. DMD occurs when there is a deletion, duplication, rearrangement, or other small mutation that disturbs the reading frame of RNA. This leads to symptoms such as degeneration of skeletal and cardiac muscle, lumbar lordosis and scoliosis, hypertrophy of the tongue, pharyngeal weakness, enlargement of the calves, impaired pulmonary function, and incontinence. The rate of incidence in the United States is roughly 2/10,000. There is no true treatment, but use of steroids can slow the disease progression. Gene therapy and cell therapy can be used in hopes of restoring the levels of dystrophin, but these are still novel approaches (Falzarano et al. 2015).

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Cereda A, Carey JC. 2012. The trisomy 18 syndrome. Orphanet Journal of Rare Diseases. http://www.ojrd.com/content/7/1/81.

Falzarano MS, Scotton C, Passarelli C, Ferlini A. 2015. molecules Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Molecules. 20:18168–18184. doi:10.3390/molecules201018168.

Janicki JA, Alman B. 2007. Scoliosis: Review of diagnosis and treatment. Paediatr Child Health. 12(9).

Kang YX, Wang YJ, Zhang Q, Pang XH, Gu W. 2017. A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review. Andrologia. 49(8).

Mainardi PC. 2006. Cri du Chat syndrome. Orphanet Journal of Rare Diseases. doi:10.1186/1750-1172-1-33.

Ries MD, Ray S, Winter RB, Bowen JR. Scoliosis in trisomy 18. Spine (Phila Pa 1976). 1990 Dec;15(12):1281-4.

Shemesh A, Margolin E. 2022. Kearns Sayre Syndrome. StatPearls.