obsolete Batten Turner congenital myopathy

Batten-Turner Congenital Myopathy: An Obsolete Condition

Batten-Turner congenital myopathy, also known as myotonia congenita, is a rare genetic disorder that affects the muscles used for movement (skeletal muscles). This condition was first described by Batten in 1910 and later studied by Turner in 1949.

Characteristics of the Condition

The condition is characterized by muscle stiffness present from childhood, affecting all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue. Stiffness is relieved by repeated contractions or electrical stimulation [1]. The symptoms are slowly progressive during infancy and childhood, but this condition does not progress further in life.

Genetic Association

The CLCN1 gene has been associated with Batten-Turner congenital myopathy. This gene encodes for a chloride voltage-gated channel 1 protein, which plays a crucial role in muscle function [11].

Other Related Conditions

Batten-Turner Congenital Myopathy is related to other conditions such as myotonia and myotonic dystrophy. These conditions also affect the muscles used for movement but have distinct characteristics.

References:

[1] - The condition was characterized by muscle stiffness present from childhood, affecting all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue (Search Result 1).

[11] - An important gene associated with Batten-Turner Congenital Myopathy is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transport of inorganic... (Search Result 11).

Signs and Symptoms of Obsolete Batten Turner Congenital Myopathy

Batten Turner Type Congenital Myopathy, also known as Batten Turner disease, is a rare inherited disorder that affects the muscles. The signs and symptoms of this condition are gradually modern throughout early stages of childhood and youth.

• Muscle stiffness: People with Batten Turner disease often experience muscle stiffness, particularly in the arms and hands [3].
• Weakness triggered by movement after rest: Temporary attacks of muscle weakness brought on by movement after periods of rest are common in individuals with this condition [3].
• Difficulty breathing or feeling short of breath: Weakness of respiratory muscles can lead to difficulty breathing or feeling short of breath, which is a common symptom [5].

It's worth noting that Batten Turner disease is considered obsolete and has been replaced by other classifications. However, the symptoms described above may still be relevant for individuals with similar conditions.

References: [3] - People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. [5] - Most affected muscles are that of pelvis, neck, and shoulder. Difficulty breathing or feeling short of breath is common due to weakness of respiratory muscles.

Based on the provided context, it appears that Batten-Turner congenital myopathy is a rare and inherited muscle disorder. While there may not be much information available on this specific condition, I can provide some general information on diagnostic tests for congenital myopathies.

Diagnostic Tests

According to search result [3], a diagnosis of congenital myopathy may be suspected upon a thorough clinical evaluation, detailed patient and family history, and identification of characteristic physical findings. However, specific diagnostic tests are not mentioned in this context.

Search result [5] mentions that Electromyography (EMG) and nerve conduction studies can be done to measure the electrical activity of the muscle. A muscle biopsy is also mentioned as the most important test for diagnosing congenital my

Based on the provided context, it appears that there isn't much information available on the specific treatment for Batten-Turner congenital myopathy. However, I can provide some general information on the treatment of related conditions.

Treatment Overview

The treatment for various forms of myotonia and neuromuscular channelopathies, which may be related to Batten-Turner congenital myopathy, typically involves managing symptoms and preventing complications. This may include:

• Medications such as quinine or phenytoin to alleviate muscle stiffness and weakness
• Physical therapy and exercise to maintain muscle function and mobility
• Respiratory support and orthopedic care to manage respiratory and musculoskeletal issues

Specific Treatment for Batten-Turner Congenital Myopathy

Unfortunately, I couldn't find any specific information on the treatment of Batten-Turner congenital myopathy. This may be due to its rarity or lack of research on this particular condition.

However, based on the context provided, it's possible that experimental treatments are being explored for related conditions. For example:

• Experimental treatments for central core disease and multicore disease may involve the use of albuterol (context #5)
• Experimental treatments for myotonic dystrophy may be under development (context #6)

General Treatment Principles

While specific treatment information is limited, it's essential to manage symptoms and prevent complications in patients with neuromuscular channelopathies. This may involve:

• Medications to alleviate muscle stiffness and weakness
• Physical therapy and exercise to maintain muscle function and mobility
• Respiratory support and orthopedic care to manage respiratory and musculoskeletal issues

Please note that these are general principles, and specific treatment recommendations should be made by a qualified healthcare professional.

References: [2], [3], [4], [5], [6]

**Differential Diagnosis of Batten