Congenital muscular dystrophy with hyperlaxity (CMDH) is a rare form of muscular dystrophy that is present at birth. It is characterized by muscle weakness, joint hyperlaxity (increased flexibility), and a lack of muscle tone. CMDH can affect the muscles of the face, neck, arms, legs, and trunk. It can also cause problems with movement, balance, and coordination. In some cases, CMDH can lead to respiratory and cardiac problems. Treatment for CMDH typically includes physical and occupational therapy, medications, and assistive devices.

The symptoms of Congenital muscular dystrophy with hyperlaxity can vary from person to person, but may include:

-Delayed motor milestones, such as sitting, standing, and walking
-Muscle Weakness and Hypotonia (low muscle tone)
-Joint hyperlaxity (loose joints)
-Scoliosis (curvature of the spine)
-Gastrointestinal problems, such as reflux and constipation
-Difficulty swallowing
-Respiratory problems, such as difficulty breathing
-Developmental delays
-Learning disabilities
-Seizures
-Frequent falls
-Frequent infections

The exact cause of congenital muscular dystrophy with hyperlaxity is unknown. However, it is believed to be caused by a genetic mutation in the COL6A1, COL6A2, or COL6A3 genes, which are responsible for producing collagen type VI, a protein that helps give structure and strength to muscles and other tissues. Other possible causes include environmental factors, such as exposure to certain toxins or infections during pregnancy.

1. Physical therapy: Physical therapy is important to help maintain muscle strength and joint range of motion.

2. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, eating, and bathing.

3. Assistive devices: Assistive devices, such as wheelchairs, walkers, and braces, can help with mobility.

4. Medications: Medications, such as muscle relaxants, can help reduce muscle spasms and improve mobility.

5. Surgery: Surgery may be necessary to correct joint deformities or to release tight muscles.

6. Genetic counseling: Genetic counseling can help families understand the condition and its inheritance.

1. Genetic mutations in the COL6A1, COL6A2, and COL6A3 genes
2. Family history of the disorder
3. Maternal diabetes
4. Maternal use of certain medications during pregnancy
5. Low birth weight
6. Premature birth
7. Exposure to certain toxins or infections during pregnancy

At this time, there is no cure for congenital muscular dystrophy with hyperlaxity. Treatment focuses on managing symptoms and preventing complications. Medications may be prescribed to help manage muscle spasms, pain, and other symptoms. Physical and occupational therapy can help maintain muscle strength and function. Surgery may be recommended to correct joint deformities.