distal myopathy Tateyama type

Distal Myopathy, Tateyama Type: A Rare Genetic Disorder

Distal myopathy, Tateyama type is a rare genetic disorder characterized by muscle atrophy and weakness in the hands and feet, particularly the thenar and interosseous muscles [

Distal Myopathy, Tateyama Type: Signs and Symptoms

Distal myopathy, Tateyama type is a rare genetic disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet. The signs and symptoms of this condition can vary from person to person, even within the same family.

Key Symptoms:

• Muscle atrophy (wasting) and weakness in the small muscles of the hands and feet
• Increased serum creatine kinase levels
• Severely reduced caveolin-3 expression on muscle biopsy

Additional Signs and Symptoms:

• Wasting and weakness of the thenar and hypothenar muscles, which are located in the hands
• Ankle dorsiflexion weakness occurs in 25% of cases and may be the initial presenting symptom
• Flexor muscles of wrists and fingers are later affected
• Progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet

Other Possible Symptoms:

• Myalgia (muscle pain)
• Neck muscle weakness
• Palpitations
• Muscle cramps

It's essential to note that the symptoms of distal myopathy, Tateyama type can be similar to those of other muscle disorders. A proper diagnosis by a healthcare professional is necessary for an accurate assessment and treatment plan.

References:

• [1] - Distal myopathy, Tateyama type is a rare genetic disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. [2]
• [6] - Ankle dorsiflexion weakness occurs in 25% of cases and may be the initial presenting symptoms in 10%. Flexor muscles of wrists and fingers are later on affected. [7]
• [8] - Patients develop progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet. Currently, there is no cure for distal myopathy, Tateyama type, but treatment options may help manage symptoms and slow disease progression.

Diagnostic Tests for Distal Myopathy, Tateyama Type

Distal myopathy, Tateyama type is a rare genetic disorder that requires accurate diagnosis to ensure proper treatment and management. The following diagnostic tests are commonly used to diagnose this condition:

• Muscle Biopsy: A muscle biopsy can help confirm the presence of distal myopathy, Tateyama type by showing reduced caveolin-3 expression on muscle tissue.
• Serum Creatine Kinase (CK) Test: Elevated serum CK levels can indicate muscle damage and are often seen in individuals with distal myopathy, Tateyama type.
• Genetic Testing: Genetic testing for the CAV3 gene can help identify mutations that cause distal myopathy, Tateyama type. This test is particularly useful for confirming a diagnosis or ruling out other conditions.
• Next-Generation Sequencing (NGS) Panel: An NGS panel that includes genes associated with muscular dystrophy and myopathy can also be used to diagnose distal myopathy, Tateyama type.

Additional Diagnostic Tests

In addition to the above tests, a doctor may also perform:

• Physical Examination: A thorough physical examination can help identify muscle weakness or atrophy in the hands and feet.
• Electromyography (EMG): EMG can help assess muscle function and detect abnormalities that may indicate distal myopathy, Tateyama type.

Genetic Testing for CAV3-Related Distal Myopathy

Genetic testing for CAV3-related distal myopathy is a valuable diagnostic tool that can help confirm a diagnosis or rule out other conditions. This test involves analyzing DNA from whole blood or muscle tissue to identify mutations in the CAV3 gene.

References:

• [1] The Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel (test code NE0701) includes genes associated with distal myopathy, Tateyama type.
• [3] Distal myopathy, Tateyama type is a rare genetic disorder characterized by muscle atrophy and weakness in the hands and feet, particularly the thenar muscles.
• [13] Caveolin 3-Related Distal Myopathy (OMIM # 614321, Myopathy, Distal, Tateyama Type) is caused by heterozygous mutations in CAV3.

Treatment Options for Distal Myopathy, Tateyama Type

According to available information, there are limited treatment options for distal myopathy, Tateyama type.

• Aceneuramic Acid: Aceneuramic acid is the first approved drug for GNE myopathy treatment [3][4]. However, it's essential to note that this medication may not be specifically approved for distal myopathy, Tateyama type. Nevertheless, studies have shown its efficacy in treating related conditions.
• Symptomatic Management: Treatment typically focuses on managing symptoms and slowing disease progression. This may include physical therapy, occupational therapy, and other supportive care measures [9].
• Surgical Intervention: In some cases, surgical management may be necessary for complications such as scoliosis or contractures [9].

It's crucial to consult with a healthcare professional for personalized guidance on managing distal myopathy, Tateyama type. They can provide more detailed information on available treatment options and create a tailored plan for each individual.

References: [3] ScienceDaily. (2024, August 20). Aceneuramic Acid (Acenobel) Extended Release Tablets 500mg approved for GNE myopathy treatment. [4] Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan Orphanet J Rare Dis. 2023 Aug 11;18(1):241. [9] Integrated disease information for Myopathy, Distal, Tateyama Type including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated...

Understanding Distal Myopathy, Tateyama Type

Distal myopathy, Tateyama type is a rare genetic disorder that affects the muscles in the hands and feet. It is characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet, increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy.

Key Features:

• Muscle Atrophy: Muscle wasting and weakness are prominent features of distal myopathy, Tateyama type.
• Limited Affected Areas: The disorder primarily affects the small muscles of the hands and feet, particularly the thenar and hypothenar muscles.
• Increased Serum Creatine Kinase: Elevated levels of serum creatine kinase indicate muscle damage.
• Reduced Caveolin-3 Expression: Severe reduction in caveolin-3 expression on muscle biopsy is a hallmark of this disorder.

Differential Diagnosis:

When considering the differential diagnosis for distal myopathy, Tateyama type, other myopathies with similar symptoms should be ruled out. These include:

• Rippling Muscle Disease 2: A rare genetic disorder that affects the muscles and causes muscle weakness.
• Proximal Myopathy: A condition characterized by muscle weakness in the proximal muscles of the limbs.

References:

• [3] Distal myopathies are a group of inherited or sporadic primary muscle disorders characterized by predominant distal muscle weakness and atrophy in hands, ...
• [13] Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy.
• [14] A differential is a gear train that allows different speeds of rotation for two or more shafts. Learn about the history, types, and uses of differentials in vehicles, clocks, computers, and more.