2025 ICD-10-CM code G71.11
(Active) Effective Date: N/A Revision Date: N/A Deletion Date: N/A Diseases of myoneural junction and muscle - Myotonic disorders Diseases of the nervous system Feed
Myotonic muscular dystrophy, also known as Steinert disease, is an inherited neuromuscular disorder causing progressive muscle weakness and impaired muscle relaxation.
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Medical necessity for services related to myotonic muscular dystrophy is established by the presence of symptoms and confirmed diagnosis through appropriate investigations.Management plans, including medications, therapies, and surgical interventions (if necessary), must be medically necessary to improve the patient's quality of life and address the disease's progression.
The clinical responsibility for myotonic muscular dystrophy involves a multidisciplinary approach.Neurologists play a key role in diagnosis and management, coordinating care with cardiologists (for cardiomyopathy), pulmonologists (for respiratory issues), ophthalmologists (for cataracts), and geneticists (for genetic counseling and testing).Physical therapists, occupational therapists, and speech therapists provide crucial rehabilitative support.Genetic counselors educate patients and families about inheritance patterns and disease management.
In simple words: Myotonic muscular dystrophy is a genetic condition causing weak muscles that don't relax easily.It can affect many parts of the body, including muscles, heart, and brain. Symptoms include muscle weakness, trouble releasing grip, and sometimes problems with the heart, lungs, or thinking. Treatment focuses on managing symptoms and making life easier.
Myotonic muscular dystrophy (G71.11), also known as proximal myotonic myopathy (PROMM), myotonic dystrophy, and myotonia atrophica (Steinert disease), is an inherited multisystem disorder primarily affecting muscles and other organs.It's caused by gene mutations interfering with protein production, leading to abnormal cellular function in the heart, brain, and musculoskeletal system.Key features include progressive muscle weakness, difficulty relaxing contracted muscles (myotonia), abnormal gait, and grip release problems. Other symptoms may include pain, muscle stiffness, facial weakness, neck mobility limitations, and early-onset cataracts. Advanced stages can manifest as a "tent-shaped" mouth, cognitive impairment, hypoventilation, cardiomyopathy, gastrointestinal issues, and increased risk of premature death. Diagnosis involves reviewing medical history, physical/neurological examination, and diagnostic tests such as creatine kinase blood tests, muscle biopsy, electromyography (EMG), pulmonary function tests, electrocardiogram (ECG), and genetic testing.Treatment focuses on managing symptoms and slowing disease progression, utilizing medications (antiepileptics, antiarrhythmic agents, antibiotics), mechanical ventilation (if needed), physical/speech therapy, orthotics, and family support. Surgical intervention may be considered as a last resort.
Example 1: A 35-year-old patient presents with progressive muscle weakness, difficulty releasing his grip on objects, and frequent muscle cramps.EMG and genetic testing confirm a diagnosis of myotonic muscular dystrophy., A 50-year-old female patient experiences increasing difficulty walking, along with noticeable facial muscle weakness and early-onset cataracts.Further investigation reveals myotonic muscular dystrophy, requiring a comprehensive management plan., A 60-year-old male patient with known myotonic muscular dystrophy is admitted to the hospital due to severe respiratory compromise.He requires mechanical ventilation and intensive care.
Comprehensive medical history detailing the onset and progression of symptoms, family history of myotonic muscular dystrophy, physical examination notes documenting muscle strength, tone, and reflexes, results of EMG, genetic testing reports, pulmonary function test results, ECG findings, and any other relevant diagnostic testing.
** Myotonic muscular dystrophy is a complex, multisystem disorder requiring a comprehensive and individualized treatment plan.Close monitoring and multidisciplinary collaboration are crucial for optimal patient management.
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- Specialties:Neurology, Genetics, Cardiology, Pulmonology, Physical Medicine and Rehabilitation
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