Multiple contracture syndrome Finnish type

Multiple contracture syndrome Finnish type
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Synonyms
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Joint contractures, muscle weakness
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Physical therapy, orthopedic interventions
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Multiple contracture syndrome Finnish type is a rare genetic disorder characterized by congenital joint contractures, muscle weakness, and other musculoskeletal abnormalities. This condition is part of a group of disorders known as arthrogryposis, which involve multiple joint contractures present at birth.

Genetics

Multiple contracture syndrome Finnish type is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific genetic mutation responsible for this condition has been identified in the Finnish population, which is why it is referred to as the "Finnish type."

Clinical Features

Individuals with this syndrome typically present with:

• Congenital joint contractures, particularly affecting the large joints such as the knees, elbows, and hips.
• Muscle weakness, which may vary in severity.
• Possible involvement of other systems, depending on the specific mutation and its effects.

Diagnosis

Diagnosis of multiple contracture syndrome Finnish type is based on clinical evaluation and confirmed through genetic testing. A detailed family history and physical examination are crucial in identifying the characteristic features of the syndrome.

Management

Management of this condition is primarily supportive and focuses on improving quality of life. Treatment options include:

• Physical therapy to maintain joint mobility and muscle strength.
• Orthopedic surgery may be considered to correct severe contractures or deformities.
• Regular follow-up with a multidisciplinary team to address any complications and provide comprehensive care.

Prognosis

The prognosis for individuals with multiple contracture syndrome Finnish type varies depending on the severity of the symptoms and the effectiveness of the management strategies employed. Early intervention and consistent management can improve outcomes and enhance the quality of life for affected individuals.

Also see

• Arthrogryposis
• Genetic disorders
• Orthopedic surgery
• Physical therapy