Myasthenia - congenital
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:
- Acetylcholinesterase inhibitors: Such as pyridostigmine, to enhance neuromuscular transmission.
- 3,4-Diaminopyridine: To increase the release of acetylcholine at the neuromuscular junction.
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]
This Neuromuscular diseases article is a stub. | |
---|---|
Disorders | Amyotrophic lateral sclerosis • Muscular dystrophy • Myasthenia gravis • Spinal muscular atrophy • Charcot-Marie-Tooth disease • Multiple sclerosis • Peripheral neuropathy • Polymyositis • Dermatomyositis |
Diagnosis and Treatment | Electromyography • Muscle biopsy • Physical therapy • Occupational therapy • Speech therapy • Immunosuppressive therapy • Gene therapy |
Related Articles | Neurology • Orthopedics • Physical medicine and rehabilitation • Genetic disorder • Autoimmune disease |
Organizations | World Health Organization • National Institute of Neurological Disorders and Stroke • Muscular Dystrophy Association • ALS Association |
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Contributors: Prab R. Tumpati, MD, Dr.T