<unk>  <unk>  is "often difficult to diagnose because of a broad differential diagnosis and lack of specific laboratory findings. Identification of the underlying mutation is critical, as certain mutations lead to treatment-responsive conditions while others do not." Whole exome sequencing (WES) is often used as a diagnostic tool that allows for the "initiation of specific treatment".
Congenital myasthenic syndrome
Limb–girdle muscular dystrophy
Lambert–Eaton myasthenic syndrome
Distal hereditary motor neuronopathies
Neurasthenia
Hereditary sensory and autonomic neuropathy
Hereditary neuralgic amyotrophy
Hereditary sensory and autonomic neuropathy type I