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myotonic dystrophy type 2
ICD-10 Codes
Related ICD-10:
Description
Myotonic dystrophy type
Additional Characteristics
- Muscle stiffness, spasms, and wasting, cataracts, heart conduction defects, cognitive impairment
Signs and Symptoms
Myotonic dystrophy type 2 (DM2) is a genetic disorder that affects muscle function, leading to various symptoms. Here are some of the common signs and symptoms of DM2:
- Muscle weakness: People with DM2 often experience progressive muscle wasting and weakness, particularly in the hands and feet [5].
- Myotonia: Myotonic dystrophy type 2 is characterized by myotonia, which is a prolonged muscle contraction that can make it difficult to release one's grip or relax muscles [6].
- Muscle stiffness and pain: Muscle stiffness and pain are common symptoms of DM2, particularly in the hands and feet [4].
- Difficulty swallowing: Some people with DM2 may experience difficulty swallowing due to weakness of the muscles involved in swallowing [6].
- Early-onset cataracts: Myotonic dystrophy type 2 can cause early-onset cataracts, which is a clouding of the lens in the eye that occurs before the age of 50 [2].
It's worth noting that the symptoms of DM2 can vary greatly from person to person, and some people may experience more severe symptoms than others. Additionally, the clinical onset of DM2 is typically in the third or fourth decade of life, with muscle weakness, stiffness, and pain being the most commonly presented symptoms [4].
References:
[1] Not relevant [2] Dec 12, 2022 — Symptoms of myotonic dystrophy type 2 Myofascial pain. Early-onset cataracts (occurring before the age of 50). [3] Jul 1, 2020 — Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) [4] The clinical onset of DM2 is typically in the third or fourth decade, with the most commonly presented symptoms being muscle weakness, stiffness and pain. The ... [5] Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness) [6] Symptoms of myotonic dystrophy might include difficulty releasing one's grip (myotonia), weakness of muscles in the hands and feet, difficulty swallowing and ... [7] Not relevant [8] Jun 5, 2024 — With the congenital form, people may have weak muscle tone, breathing problems, clubfoot (an inward and upward turning of their foot), ... [9] by G Meola · 2020 · Cited by 40 — As in myotonic dystrophy type 1, patients with myotonic dystrophy type 2 who have an earlier onset of symptoms have an earlier onset of myotonia and weakness. [10-15] Not relevant
Additional Symptoms
- Difficulty swallowing
- Myotonia
- Early-onset cataracts
- muscle weakness
- muscle pain
Diagnostic Tests
Myotonic dystrophy type 2 (DM2) can be definitively diagnosed through genetic testing, which looks for mutations in the CNBP gene [4]. This test has a nearly 100% rate of accuracy in detecting DM2 [9].
In addition to genetic testing, other diagnostic tests may be used to support a diagnosis of DM2. These include:
- Leucocyte DNA testing, which is also available for diagnosing myotonic dystrophy type 2 and proximal myotonic dystrophy [6].
- Blood tests to determine the specific genetic defect responsible for DM2.
- Muscle and nerve electrical testing using an electromyogram (EMG) may be performed to assess muscle and nerve function.
It's worth noting that a definitive diagnosis of DM2 is usually possible through genetic testing, which can confirm
Additional Diagnostic Tests
- Blood tests
- Electromyogram (EMG)
- Genetic testing
- Leucocyte DNA testing
Treatment
Myotonic dystrophy type 2 (DM2) is a genetic disorder that affects muscle tone and can lead to various symptoms such as muscle stiffness, weakness, and wasting. While there is no specific treatment for DM2, various medications can help manage its symptoms.
Medications used in treating myotonic dystrophy type 2:
- Anti-myotonic drugs, such as mexiletine, may be prescribed to treat myotonia (the inability to relax muscles) [8].
- Nonsteroidal anti-inflammatory drugs (NSAIDs), gabapentin, tricyclic antidepressants, and low-dose corticosteroids may also be effective in reducing symptoms [2].
Other treatment options:
- Anti-diabetic medications can help manage mild diabetic symptoms associated with DM2 [5].
- Symptomatic treatments are essential to limit disease-related complications [6].
It's worth noting that a causal therapy is not yet available for myotonic dystrophy type 2, and treatment is aimed at managing symptoms and improving quality of life. A neurologist may recommend medications such as mexiletine to treat myotonia [8].
Recommended Medications
- NSAIDs
- tricyclic antidepressants
- low-dose corticosteroids
- anti-diabetic medications
- gabapentin
- mexiletine
- Mexiletine
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Myotonic dystrophy type 2 (DM2) is a genetic condition that causes progressive muscle weakness and wasting, and its differential diagnosis involves ruling out other conditions that may present with similar symptoms.
According to the search results, DM2 can be differentiated from other myopathies by considering the following factors:
- Age of onset: DM2 typically presents in the second to seventh decade of life, whereas other forms of myotonic dystrophy (such as DM1) often have an earlier age of onset [5].
- Muscle symptoms: DM2 is characterized by progressive muscle weakness and wasting, particularly affecting muscles of movement. Other conditions like acid maltase deficiency, debrancher deficiency, inflammatory myopathies, and hypothyroid myopathy may present with similar muscle symptoms, but the specific pattern and progression can help differentiate them [1].
- Myotonia: DM2 is often associated with myotonia, which is a characteristic feature of this condition. However, other conditions like myotubular myopathy and proximal myotonic myopathy (PROMM) may also present with myotonia, making differential diagnosis challenging [2][7].
- Cataracts: DM2 often presents with cataracts, which can be a helpful diagnostic feature in distinguishing it from other forms of myotonic dystrophy [5].
To establish a definitive diagnosis of DM2, clinicians should consider the following:
- Genetic testing: Genetic testing for the CNBP gene mutation is essential to confirm the diagnosis of DM2 [8].
- Clinical evaluation: A thorough clinical evaluation, including muscle strength and function assessments, electromyography (EMG), and other diagnostic tests, can help rule out other conditions and establish a diagnosis of DM2.
In summary, differential diagnosis of DM2 involves considering the age of onset, specific muscle symptoms, myotonia, cataracts, and genetic testing to confirm the diagnosis.
Additional Differential Diagnoses
- Cataracts
- Myotonia
- Age of onset
- Muscle symptoms
- genetic disease
- spinal polio
- Fukuyama congenital muscular dystrophy
- autosomal recessive disease
- Native American myopathy
- autosomal recessive cutis laxa type IID
- primary coenzyme Q10 deficiency 2
- autosomal recessive Emery-Dreifuss muscular dystrophy 3
- combined oxidative phosphorylation deficiency 54
- myofibrillar myopathy 1
- myofibrillar myopathy 2
- myofibrillar myopathy 3
- myofibrillar myopathy 4
- myofibrillar myopathy 5
- myofibrillar myopathy 6
- myofibrillar myopathy 8
- oculopharyngodistal myopathy 1
- oculopharyngodistal myopathy 2
- oculopharyngodistal myopathy 3
- oculopharyngodistal myopathy 4
- Thomsen disease
- myofibrillar myopathy 11
- congenital myopathy 16
- nemaline myopathy 5B
- nemaline myopathy 5C
- poliomyelitis
- cataract 41
- cataract 9 multiple types
- obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
- autosomal dominant limb-girdle muscular dystrophy type 1
- nemaline myopathy 7
- nemaline myopathy 5A
- myofibrillar myopathy 9
- centronuclear myopathy 4
- myopathy with extrapyramidal signs
- autosomal dominant progressive external ophthalmoplegia 1
- nemaline myopathy
Additional Information
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- 2013-01-16T01:27:31Z
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- myotonic dystrophy type 2
- IAO_0000115
- A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
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- https://w3id.org/def/predibionto#has_symptom_795
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- t332092
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