A Woman With Droopy Eyelids and Difficulty Swallowing

A 71-year-old woman presented with a 5-year history of progressive difficulty swallowing, mild hoarseness, and droopy eyelids. She had an esophageal dilatation procedure with some improvement in swallowing 3 years before presentation. She had some difficulty handling saliva and noticed a nasal twang in her voice but had no limb muscle weakness.

The family history was positive for a brother, her mother, maternal grandmother, and several cousins with difficulty swallowing. Past medical history was unremarkable.

On examination, she had normal mentation and cranial nerves. Extraocular movements were intact. She had ptosis with contraction of the forehead when looking straight ahead, demonstrating Hutchinson or “astronomer’s” sign ( Fig. 84-1 ). There was minimal weakness of the orbicularis oculi and of the neck flexors; limb muscle strength was normal. Reflexes were 1+ throughout without pathologic reflexes. Gait, sensory examination, and coordination were unremarkable.

Chemistry profile was normal, serum creatine kinase (CK) was 300 U/L (normal, <200 U/L) and serum lactate was normal.

What is the Differential Diagnosis?

The differential diagnosis of this patient with difficulty swallowing and droopy eyelids includes mitochondrial myopathies which in adults could manifest as progressive external ophthalmoplegia with ptosis and dysphagia but could have a more prominent proximal weakness. These can be sporadic or recessive and, rarely, are autosomal-dominant. Serum CK and lactate are frequently elevated, and muscle biopsy demonstrates the characteristic ragged red fibers.

Myasthenia gravis should always be considered in patients with ptosis. That diagnosis, in this case, was unlikely because the symptoms did not fluctuate, and there was a positive family history. If myasthenia gravis is suspected, patients should be worked up for this disease, including a repetitive stimulation test; this test also helps to diagnose Lambert–Eaton myasthenic syndrome, which could present with mild ptosis and some dysphagia, but generalized weakness, fatigue, and areflexia are more typical.

Patients with inclusion body myositis might have difficulty swallowing, but they have no ptosis and have distal weakness and prominent weakness in the quadriceps muscles. Patients with familial-inclusion body myopathy experience significant limb weakness, excluding the quadriceps, and have no dysphagia or ptosis, except for familiar groups that also manifest with ophthalmoplegia.

Individuals with myotonic dystrophy might have ptosis and later develop difficulty swallowing, but usually have typical facial features, distal weakness, and myotonia. There is also an autosomal-recessive oculopharyngeal-distal muscular dystrophy.

Other diseases that manifest with dysphagia, but without ptosis, include amyotrophic lateral sclerosis, bulbospinal neuromuscular atrophy (Kennedy disease), and polymyositis.

The most likely diagnosis in this patient is oculopharyngeal muscular dystrophy (OPMD).

An EMG Test was Performed

Motor Nerve Studies

Nerve and Site	Latency (ms)	Amplitude (mV)	Conduction Velocity (m/s)
Ulnar Nerve R.	Normal ≤ 3.6	Normal ≥ 8	Normal ≥ 50
Wrist	3.5	15	–
Below elbow	7.6	15	52
Above elbow	9.7	15	60

Repetitive Stimulation Study

Facial Nerve R.

Normal

Sensory Nerve Study

Nerve	Onset Latency (ms)	Normal Onset Latency ≤ (ms)	Peak Latency (ms)	Normal Peak Latency ≤ (ms)	Amp (μV)	Normal Amp ≥ (μV)	Conduction Velocity (m/s)	Normal Conduction Velocity ≥ (m/s)
Ulnar nerve L.	2.2	2.6	2.8	3.1	15	13	54	50

EMG Data

Muscle	Insrt Activity	Fibs	Pos Waves	Fasc	Amp	Dur	Poly	Pattern
Deltoid R.	Norm	None	None	None	Dec ^a	Brief	Many	Full ^b
Biceps brachii R.	Norm	None	None	None	Dec ^a	Brief	Many	Full ^b
Triceps R.	Norm	None	None	None	Dec ^a	Brief	Few	Full
Flexor carpi ulnaris R.	Norm	None	None	None	Norm	Norm	None	Full
Flexor carpi radialis R.	Norm	None	None	None	Norm	Norm	None	Full
Extensor digitorum com. R.	Norm	None	None	None	Norm	Norm	None	Full
First dorsal interosseous R.	Norm	None	None	None	Norm	Norm	None	Full