2025 ICD-10-CM code G71.13
(Valid) Effective Date: N/A Diseases of the nervous system - Diseases of myoneural junction and muscle 6 Feed
Myotonic chondrodystrophy, also known as chondrodystrophic myotonia or Schwartz-Jampel syndrome.
Medical necessity for diagnostic testing and treatment is established by the presence of signs and symptoms consistent with myotonic chondrodystrophy. Genetic testing confirms the diagnosis and guides management.
Diagnosis involves physical examination, medical history, electromyography (EMG), genetic testing, and sometimes muscle biopsy. Treatment focuses on managing symptoms with physical therapy, medication for muscle stiffness, and sometimes surgery for skeletal issues.
In simple words: Myotonic chondrodystrophy is a genetic condition where muscles are stiff and bones and cartilage don't grow properly. This leads to short height, problems with joints, and distinct facial characteristics.
Myotonic chondrodystrophy is a rare, inherited disorder characterized by myotonia (muscle stiffness) and chondrodysplasia (abnormal cartilage and bone development). It presents with short stature, joint deformities, and characteristic facial features.The myotonia can be generalized or more prominent in certain muscle groups.
Example 1: A child presents with short stature, stiff muscles, and joint contractures. Genetic testing confirms a diagnosis of myotonic chondrodystrophy., An adult with a history of muscle stiffness and skeletal abnormalities is diagnosed with myotonic chondrodystrophy after EMG studies., An infant with distinct facial features and difficulty with movement is found to have myotonic chondrodystrophy through genetic testing.
Documentation should include physical exam findings (e.g., muscle stiffness, joint limitations), results of EMG and genetic testing, and details of any skeletal abnormalities. Family history of similar conditions should also be noted.
- Specialties:Neurology, genetics, orthopedics, physical medicine and rehabilitation
- Place of Service:Office, Inpatient Hospital, Outpatient Hospital