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Motor Neuron Disease

71-year-old female developed progressive dysarthria and dysphagia. Her doctor describes her speech difficulty as “Spastic dysarthria with slow and nasal speech" and noticed decreased mobility in the tongue and palate. She underwent multiple investigations and started Rilutek. The differential diagnosis of isolated swallowing and speaking difficulties include: Early motor neuron disease, Cranial neuropathies, Myopathies, Neuromuscular junction disorders and Neurodegenerative movement disorders.

Chromosome 22 micro-deletion syndrome

26-year-old female diagnosed with Chromosome 22 micro-deletion syndrome (VCFS). Psychiatric exam showed borderline cognitive ability, with attentive-amnesic-executive deficits. The suggested treatment is drug therapy together with psychological intervention.

Motor Neuron Disease – another opinion

72-year-old female developed progressive dysarthria and dysphagia. Her doctor describes her speech difficulty as “Spastic dysarthria with slow and nasal speech" and noticed decreased mobility in the tongue and palate. She underwent multiple investigations and started Rilutek. Since there is no biologic marker for ALS, the expert suggests further testing that is focused on trying to rule out other disorders and show diffuse lower motor neuron involvement

Motor Neuron Disease – additional opinion

71-year-old female developed progressive dysarthria and dysphagia. She underwent multiple investigations and started Rilutek. Her EMG study does not meet published criteria for the electrophysiologic diagnosis of motor neuron disease. In the expert's opinion, a definite diagnosis is not possible at the present time, and there would be utility in repeating clinical and electrophysiologic testing. The expert also recommends to perform pulmonary function testing.

Cricotracheal resection as treatment for laryngeal stenosis cotton grade IV

The patient is a former premature baby who underwent tracheostomy after 30 days of intubation and laryngotracheoplasty with anterior and posterior costal grafts and implantation of a T-tube. She is now 10 years-old and was diagnosed with Cotton’s grade 4 subglottic stenosis. The restricted airways (laryngeal stenosis) cause severe breathing and communication difficulties.

Mild Alzheimer’s disease – additional opinion

78-year-old male was diagnosed with possible mild Alzheimer’s disease. Medical history suggests a condition running a slow but steadily deteriorating course characterized by apathy as well as by impairment of memory, word finding difficulties and reduced vocabulary, impaired ability to make calculation and handle finances and difficulties in managing house work and going outside unsupervised. An episode with characteristics of delirium in the past is described as well. The neuropsychological evaluation describes moderate dementia.

Cervical Dystonia – additional opinion

47-year-old female with neck problems underwent Blink Reflex tests and EMG of the neck, and was diagnosed with cervical dystonia. Medical treatments available for cervical dystonia include anticholinergic therapy, Baclofen, or deep brain stimulation, but the mainstay of therapy remains botulinum toxin injections, which are considered the superior treatment for symptom control with less side effects in comparison to oral medications.

Cerebral Atrophy

A 52 year old began having difficulties with balance. His problems evolved and he had been seen by neurologists providing clinical evidence for a cerebellar motor syndrome. The most recent examination showed ataxia, dysarthria, nystagmus, dysphagia and hyperreflexia. Although the disease has progressed the patient is not severely disabled at this time.