CONGENITAL

MYASTHENIC
SYNDROMES
FRANCIS CEDRIK A. SALCEDO SGD 6
CONGENITAL MYASTHENIC SYNDROMES
- Not autoimmune but due to genetic mutations
- Rare heterogenous group of disorders
- most commonly have an autosomal recessive mode of inheritance
- should be suspected when symptoms of myasthenia have begun in infancy or
childhood, but they can present in early adulthood
- share many of the clinical features of autoimmune MG, including weakness and
fatigability of proximal or distal extremity muscles, and often involving EOMs and
the eyelids similar to the distribution in autoimmune MG
- The most common of these are loss-of-function mutations in the gene encoding
the ε-subunit of the acetylcholine receptor.
Difference from Autoimmune MG

1. Onset
2. Absence of AChR and MuSK antibodies
3. No association with thymic abnormalities unlike in MG
4. Can affect presynaptic, synaptic and postsynaptic proteins
5. Some forms (e.g., AChE deficiency, prolonged open channel syndrome) have a
feature of after-discharges which are not seen in MG.
RULE IN

1. Extraocular muscles are typically involved in early course of disease diplopia and ptosis
are common initial complaints
2. Facial weakness produces a “snarling” expression when the patient attempts to smile.
3. Weakness in chewing
4. Tongue weakness- difficulty in pronouncing words
5. Weakness becomes generalized, affecting the limb muscles (also evident in the motor
neurologic examination)
RULE OUT

1. Onset of symptoms of myasthenia is during infancy or childhood, but they can

present in early adulthood
SOURCES

Robbins; Pathological Basis of Disease 10th ed.

Harrisons Principle of Internal Medicine, 20th ed.