Limb-girdle muscular dystrophy (LGMD) is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and features of LGMD vary among the many subtypes of the condition and even among individuals with the same subtype. One such subtype is the POMK gene-related LGMD, known as LGMDR12 or LGMD autosomal recessive type 12C, which is a rare genetic disorder caused by mutations in the POMK gene.
Symptoms of POMK Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 12C
The symptoms of LGMDR12 can vary significantly from one person to another but typically include muscle weakness that progresses over time, leading to difficulties with mobility and daily activities. The onset of symptoms usually occurs in childhood or adolescence. Key symptoms and signs of LGMDR12 include:
- Muscle weakness, particularly in the shoulders, upper arms, hips, and thighs
- Difficulty walking, climbing stairs, and rising from a seated or lying position
- Muscle wasting, leading to decreased muscle mass
- Potential development of a waddling gait due to hip muscle weakness
- Joint stiffness or contractures, which are limitations in the range of motion of certain joints
- In some cases, heart and respiratory muscles may also be affected, leading to complications
It is important to note that the severity and progression of symptoms can vary widely among affected individuals. Some may experience mild symptoms and maintain the ability to walk without assistance well into adulthood, while others may face more severe muscle weakness and require the use of mobility aids at an earlier age.
Genetic Test for POMK Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 12C
To confirm a diagnosis of LGMDR12, genetic testing is required. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the POMK gene associated with this condition. The test involves a simple blood draw or saliva sample, which is then analyzed in our state-of-the-art laboratory for the presence of the genetic mutations known to cause LGMDR12.
The cost of the POMK gene limb-girdle muscular dystrophy autosomal recessive type 12C genetic test is 4400 AED. This test is crucial for individuals who have symptoms suggestive of LGMDR12, as well as for family members of affected individuals who may be at risk of carrying the same genetic mutation.
Early and accurate diagnosis through genetic testing can help in managing the symptoms of LGMDR12, planning for potential complications, and informing family planning decisions. Moreover, understanding the genetic basis of the condition can provide valuable insights into potential treatment and intervention strategies.
For more information about the POMK gene limb-girdle muscular dystrophy autosomal recessive type 12C genetic test and to schedule your test, please visit DNA Labs UAE.
At DNA Labs UAE, we are committed to providing accurate, confidential, and timely genetic testing services. Our team of experts uses the latest technology and methods to ensure the highest quality standards in genetic testing. We understand the importance of reliable genetic information for individuals and families affected by genetic disorders like LGMDR12 and are here to support you every step of the way.
Remember, early diagnosis and intervention can make a significant difference in the management of limb-girdle muscular dystrophy. If you or a loved one is experiencing symptoms consistent with LGMDR12, consider reaching out to DNA Labs UAE for a genetic test. Our team is here to provide the information and support you need to navigate your health journey with confidence.
