Myasthenia - congenital

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Myasthenia - Congenital


Congenital Myasthenia
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Muscle weakness, fatigue
Complications N/A
Onset Birth or early childhood
Duration Lifelong
Types N/A
Causes Genetic mutations
Risks Family history
Diagnosis Clinical evaluation, genetic testing
Differential diagnosis N/A
Prevention N/A
Treatment Medications, supportive care
Medication N/A
Prognosis Variable
Frequency N/A
Deaths N/A


Congenital myasthenia refers to a group of neuromuscular disorders characterized by muscle weakness and fatigue due to defects at the neuromuscular junction. Unlike myasthenia gravis, congenital myasthenia is not an autoimmune disorder but is caused by genetic mutations.

Etiology[edit | edit source]

Congenital myasthenia is caused by mutations in genes that are critical for the function of the neuromuscular junction. These mutations can affect various components such as the acetylcholine receptor, acetylcholinesterase, or other proteins involved in synaptic transmission.

Genetic Mutations[edit | edit source]

Several genes have been implicated in congenital myasthenia, including:

  • CHRNA1: Encodes the alpha subunit of the acetylcholine receptor.
  • CHRNB1: Encodes the beta subunit of the acetylcholine receptor.
  • CHRND: Encodes the delta subunit of the acetylcholine receptor.
  • CHRNE: Encodes the epsilon subunit of the acetylcholine receptor.
  • RAPSN: Encodes rapsyn, a protein involved in clustering acetylcholine receptors at the neuromuscular junction.

Clinical Presentation[edit | edit source]

Symptoms of congenital myasthenia typically present at birth or in early childhood. The severity and specific symptoms can vary depending on the underlying genetic mutation.

Common Symptoms[edit | edit source]

  • Muscle weakness
  • Fatigue
  • Ptosis (drooping of the eyelids)
  • Difficulty swallowing
  • Respiratory difficulties

Diagnosis[edit | edit source]

Diagnosis of congenital myasthenia involves a combination of clinical evaluation, family history, and genetic testing. Electromyography (EMG) and nerve conduction studies may also be used to assess neuromuscular function.

Treatment[edit | edit source]

Treatment for congenital myasthenia is primarily symptomatic and supportive. Medications that may be used include:

Supportive care may include physical therapy, respiratory support, and nutritional support.

Prognosis[edit | edit source]

The prognosis for individuals with congenital myasthenia varies widely depending on the specific genetic mutation and the severity of symptoms. Some individuals may experience significant improvement with treatment, while others may have persistent symptoms.

See Also[edit | edit source]

External Links[edit | edit source]


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This Neuromuscular diseases article is a stub.
Disorders Amyotrophic lateral sclerosisMuscular dystrophyMyasthenia gravisSpinal muscular atrophyCharcot-Marie-Tooth diseaseMultiple sclerosisPeripheral neuropathyPolymyositisDermatomyositis
Diagnosis and Treatment ElectromyographyMuscle biopsyPhysical therapyOccupational therapySpeech therapyImmunosuppressive therapyGene therapy
Related Articles NeurologyOrthopedicsPhysical medicine and rehabilitationGenetic disorderAutoimmune disease
Organizations World Health OrganizationNational Institute of Neurological Disorders and StrokeMuscular Dystrophy AssociationALS Association
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