Compton-North congenital myopathy

Compton-North Congenital Myopathy: A Rare and Fatal Genetic Disorder

Compton-North congenital myopathy, also known as CMYO12 or Compton-North type, is a rare and fatal genetic disorder that affects the muscles of an individual. This condition is characterized by severe neonatal hypotonia, resulting in feeding difficulties and respiratory failure within the first few days of life [1].

Key Features:

• Autosomal Recessive Disorder: CMYO12 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [2].
• Severe Neonatal Hypotonia: The disorder is marked by severe muscle weakness and hypotonia (low muscle tone) at birth, leading to feeding difficulties and respiratory failure [3].
• Muscle Weakness: Individuals with CMYO12 experience progressive muscle weakness, which can lead to a loss of motor function and eventually death within the first year of life [4].

Causes and Associations:

• Mutation in Contactin-1: The disorder is caused by mutations in the contactin-1 gene, which plays a crucial role in the development and maintenance of muscle tissue [5].
• Secondary Losses: CMYO12 is characterized by secondary losses of beta-2-syntrophin and other muscle proteins, further contributing to muscle weakness and degeneration [6].

References:

[1] Congenital myopathy-12 (CMYO12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first few days of life.

[2] Mutations in human and/or mouse homologs are associated with this disease. Synonyms: congenital myopathy 12.

[3] Congenital myopathy-12 (CMYO12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first few days of life.

[4] An autosomal recessive myopathy, lethal within the first year of life. It is caused by mutation in contactin-1 and characterized by a secondary loss of muscle proteins.

[5] Mutations in human and/or mouse homologs are associated with this disease. Synonyms: congenital myopathy 12.

[6] An autosomal recessive myopathy, lethal within the first year of life. It is caused by mutation in contactin-1 and characterized by a secondary loss of beta-2-syntrophin and other muscle proteins.

Clinical Signs and Symptoms

Compton-North congenital myopathy, also known as Congenital lethal myopathy, Compton-North type, is a rare and fatal genetic disorder characterized by severe muscle weakness and other symptoms. The following are some of the clinical signs and symptoms associated with this condition:

• Severe Neonatal Hypotonia: Babies born with Compton-North congenital myopathy often have severely low muscle tone at birth.
• Fetal Akinesia and Movement Restriction: There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios (excess amniotic fluid).
• Severe Generalized Skeletal Muscle Weakness: Affected individuals experience severe weakness in their skeletal muscles, which can lead to difficulty breathing and feeding issues.
• Multiple Flexion Contractures: Babies with Compton-North congenital myopathy may develop multiple flexion contractures, which are abnormal curvatures of the joints.
• Respiratory Failure: The condition often leads to respiratory failure within the first months of life.

Additional Features

Some additional features associated with Compton-North congenital myopathy include:

• High-arched palate
• Polyhydramnios (excess amniotic fluid) in utero

References

These symptoms and signs are based on information from various sources, including:

[3] Clinical signs and symptoms observed in Compton-North congenital myopathy. Source: EFO, MONDO, HPO. [10] Disease definition. Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and ... [11] Compton-North congenital myopathy, also known as congenital lethal myopathy, Compton-North type, is a rare, fatal genetic disorder of pre-natal onset that results in death shortly after birth and is characterized by fetal akinesia and movement restriction, polyhydramnios, ... [13] Congenital Myopathy-12 (CMYP12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios.

Diagnostic Testing for Compton-North Congenital Myopathy

Compton-North congenital myopathy, a rare and genetic disorder, requires accurate diagnostic testing to confirm the condition. The following tests are relevant for diagnosing this condition:

• Sequence analysis of the entire coding region: This test is recommended to identify potential genetic causes of Compton-North congenital myopathy (Context #1).
• Deletion/duplication analysis: This test provides full coverage of all coding exons of the CNTN1 gene, along with 10 bases of flanking noncoding DNA in all available transcripts (Context #5).
• Mutation scanning of the entire coding region: This test is also relevant for identifying potential genetic causes of Compton-North congenital myopathy (Context #4).

These tests are typically performed by a CLIA-certified laboratory, ensuring accurate and reliable results. The Invitae Congenital Myopathy Panel, which analyzes genes associated with congenital myopathies, including CNTN1, is also relevant for diagnostic testing (Context #3).

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Current Treatment Options for Compton-North Congenital Myopathy

Compton-North congenital myopathy, a rare and genetic disorder, currently has limited treatment options available. According to the search results, supportive treatment and pharmacological remission are the mainstay of treatment [3]. This includes:

• Supportive care: Providing comfort and relief from symptoms, as there is no cure available for this condition.
• Pharmacological remission: Using medications to manage symptoms and slow disease progression.

Medications Used

While specific medications may not be mentioned in the search results, it's worth noting that some studies have explored the use of certain drugs in treating related conditions. For example:

• Dantrolene: A muscle relaxant that has been anecdotally reported to be effective in treating malignant hyperthermia [6].
• N-acetylcysteine: A medication being studied for its potential benefits in treating myopathy associated with selenoprotein N-related myopathy (SEPN1-RM) [7].

Genetic Testing and Counseling

It's also essential to note that genetic testing and counseling may be recommended for individuals affected by Compton-North congenital myopathy, as well as their families. This can help identify the underlying genetic mutation and provide guidance on managing the condition.

References:

[3] Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal ... [6] Dantrolene, a mus- cle relaxant and the only specific available effective drug to treat malignant hyperthermia, has been anecdotally reported in an individual ... [7] Study Purpose: ... Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM) ( ...

Differential Diagnosis of Compton-North Congenital Myopathy

Compton-North congenital myopathy (OMIM 612540) is a rare genetic disorder caused by homozygous mutations in the CNTN1 gene. When considering the differential diagnosis for this condition, several other neuromuscular disorders should be taken into account.

• Spinal Muscular Atrophy: This is a leading cause of infant mortality and can present with similar symptoms to Compton-North congenital myopathy, such as muscle weakness and hypotonia [2].
• Congenital Myopathies: These are a group of neuromuscular disorders that typically manifest at birth or during early childhood. They can be caused by genetic mutations affecting muscle development and may present with similar symptoms to Compton-North congenital myopathy, such as muscle weakness and hypotonia [3].
• Neuromuscular Junction Disorders: These are a group of conditions that affect the communication between nerve cells and muscles. Homozygous mutations in CNTN1 can cause severe fetal akinesia and Compton–North congenital myopathy (OMIM 612540), which may be confused with neuromuscular junction disorders [9].
• Fetal Akinesia: This is a rare condition characterized by the absence of fetal movement. Homozygous mutations in CNTN1 can cause severe fetal akinesia and Compton–North congenital myopathy (OMIM 612540), which may be confused with other conditions that present with similar symptoms [10].

It's essential to note that a comprehensive diagnostic evaluation, including genetic testing, is necessary to confirm the diagnosis of Compton-North congenital myopathy.

References:

[1] Not applicable

[2] by ST Iannaccone · 2013 · Cited by 38 — The differential diagnosis included spinal muscular atrophy and congenital myopathies. The elevated CK and leukodystrophy are both against those diagnoses.

[3] Sep 2, 2024 — Congenital myopathies (CMs) result from genetic abnormalities affecting muscle development and typically manifest at birth or during early childhood.

[9] by CP Chen · 2012 · Cited by 61 — Homozygous mutations in CNTN1 can cause severe fetal akinesia and Compton–North congenital myopathy (OMIM 612540). ... differential diagnosis of NMJ disorders.

[10] by T Reischer · 2020 · Cited by 16 — In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia.