Multiple pterygium-malignant hyperthermia syndrome (MPMHS) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) and malignant hyperthermia (MH), a potentially life-threatening reaction to certain medications or anesthesia. People with MPMHS may also have skeletal abnormalities, intellectual disability, and other medical problems. Treatment typically involves managing the symptoms and complications of the disorder.

The symptoms of Multiple Pterygium-Malignant Hyperthermia Syndrome (MPMHS) vary from person to person, but may include:

-Muscle weakness
-Joint contractures
-Scoliosis
-Respiratory problems
-Feeding difficulties
-Developmental delays
-Seizures
-Cardiac arrhythmias
-Gastrointestinal problems
-Skin abnormalities
-Malignant hyperthermia episodes
-Hypotonia
-Facial dysmorphism

Multiple pterygium-malignant hyperthermia syndrome (MPMHS) is a rare genetic disorder caused by mutations in the RYR1 gene. This gene is responsible for the production of a protein called ryanodine receptor 1, which is involved in the regulation of calcium release from the sarcoplasmic reticulum in muscle cells. Mutations in this gene can lead to an abnormal release of calcium, which can cause muscle rigidity, increased body temperature, and other symptoms associated with malignant hyperthermia.

The treatment for Multiple pterygium-malignant hyperthermia syndrome (MPMHS) is primarily supportive. This includes monitoring for signs and symptoms of malignant hyperthermia, providing adequate hydration and nutrition, and providing physical and occupational therapy to help maintain range of motion and strength. Medications may be used to help manage symptoms such as muscle spasms, pain, and seizures. Surgery may be recommended to correct any skeletal deformities or to release tight muscles. In some cases, gene therapy may be used to correct the underlying genetic defect.

1. Genetic predisposition: Multiple pterygium-malignant hyperthermia syndrome is an inherited disorder caused by a mutation in the RYR1 gene.

2. Age: The disorder is more common in children and young adults.

3. Gender: Males are more likely to be affected than females.

4. Ethnicity: Multiple pterygium-malignant hyperthermia syndrome is more common in individuals of European descent.

5. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

Unfortunately, there is no cure for Multiple Pterygium-Malignant Hyperthermia Syndrome (MPMHS). However, there are medications that can help manage the symptoms of the condition. These include muscle relaxants, anticonvulsants, and medications to help with breathing. Additionally, physical therapy and occupational therapy can help improve muscle strength and coordination.