CK syndrome

CK Syndrome Description

CK syndrome, also known as CKS (CK syndrome), is a rare genetic disorder that affects males. It is characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, and dysmorphic facial features.

The physical characteristics of individuals with CK syndrome may include:

• Long, narrow face
• Almond-shaped palpebral fissures (eyes)
• Epicanthic folds (skin folds at the inner corner of the eyes)
• High nasal bridge
• Malar flattening (flattened cheeks)
• Posteriorly rotated ears

Individuals with CK syndrome may also experience seizures beginning in infancy, microcephaly (small head size), and cerebral cortical malformations. The disorder is caused by a hemizygous mutation in the NSDHL gene on chromosome Xq28.

CK syndrome is an X-linked recessive disorder, meaning it primarily affects males who inherit the mutated gene from their mother. Females can be carriers of the mutated gene but are less likely to express symptoms due to the presence of two X chromosomes.

References:

• [1] CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears ...
• [3] A number sign (#) is used with this entry because of evidence that CK syndrome (CKS) is caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. Description CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic ...
• [5] Description: CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral cortical malformations, and a thin body habitus. ...

CK Syndrome, also known as Rhabdomyolysis, can exhibit various signs and symptoms.

Some common signs and symptoms of CK syndrome include:

• Muscle pain and/or cramps [4]
• Muscle weakness [4][5]
• Balance problems and/or falling a lot [4]
• Numbness or tingling [4]
• Dark colored urine (pee) [4]
• Swollen legs [4]

Additionally, some people may experience more severe symptoms such as:

• Severe muscle damage due to injury or chronic disease [7]
• Blood clots [7]
• Infection [7]
• Surgery [7]
• Intense physical activity [7]
• Some medications [7]

It's also worth noting that CK levels can rise after vigorous exercise, especially in individuals with hypothyroidism [8]. If you are experiencing any of these symptoms or have concerns about your health, it is essential to consult a healthcare professional for proper evaluation and treatment.

References: [4] - Oct 25, 2023 [5] - Sep 13, 2022 [7] - Jul 3, 2024 [8] - by S MOGHADAM-KIA · 2016

CK (Creatine Kinase) syndrome, also known as idiopathic hyper-CK-emia, is a condition characterized by elevated levels of creatine kinase in the blood without any apparent muscle damage or neurological symptoms.

Diagnostic tests for CK syndrome:

• Electromyography: This test measures the electrical activity of muscles and can help rule out other conditions that may cause elevated CK levels. [6]
• Muscle biopsy: A small sample of muscle tissue is taken to examine for any signs of damage or abnormality. [3]
• Nerve conduction studies: These tests measure the speed and strength of electrical signals in nerves, which can help identify any nerve damage. [3]
• Serum CK levels: Measuring the level of creatine kinase in the blood is a key diagnostic test for CK syndrome. Elevated levels are typically defined as more than 5 times the upper limit of normal. [14]

Other tests:

• Troponin testing: While not directly related to CK syndrome, troponin testing can help rule out heart damage or other conditions that may cause elevated CK levels. [11]
• Urinalysis: This test can help identify any signs of muscle damage or myoglobinuria (the presence of myoglobin in the urine). [10]

Confirming a diagnosis:

A diagnosis of CK syndrome is typically confirmed when patients have:

• Elevated serum CK levels
• No apparent muscle damage or neurological symptoms
• Normal electromyography and nerve conduction studies
• Muscle biopsy showing no signs of damage

It's worth noting that the diagnosis of CK syndrome can be challenging, and a systematic approach may be necessary to confirm the condition. [15]

References:

[3] Rowland et al 35 [6] [10] [11] [14] [15]

Treatment Options for CK Syndrome

CK syndrome, also known as Creatine Kinase syndrome, is a rare genetic disorder characterized by mild to severe intellectual disability and infancy-onset symptoms. While there is no cure for CK syndrome, various treatment options can help manage its manifestations.

• Behavioral Modification: Behavioral modification techniques, such as positive reinforcement and redirection, can be effective in managing behavioral issues associated with CK syndrome.
• Drug Therapy: In some cases, medication may be prescribed to help control aggression or other symptoms. However, the use of medication should be carefully considered and monitored by a healthcare professional.

Important Considerations

When considering drug treatment for CK syndrome, it is essential to weigh the potential benefits against the risks and side effects. Medication should only be used under the guidance of an experienced healthcare provider.

• Statin Treatment: Statin therapy should be discontinued immediately if elevated creatine kinase (CK) levels are found or suspected.
• Fluid Resuscitation: Fluid resuscitation, urine alkalization, and diuretic agents may be administered when CK levels are significantly elevated after muscle injury.

References

1. [4] Statin treatment should be discontinued immediately if an elevated CK level is found (i.e., CK >10 x upper limit of normal), or where myopathy is suspected or confirmed.
2. [5] Fluid resuscitation, urine alkalization, and diuretic agents should be administrated when CK are significantly elevated after muscle injury.

Note: The information provided above is based on the context and search results provided. It is essential to consult a healthcare professional for personalized advice and treatment.