Sample Type / Medical Specialty: Consult - History and Phy.
Sample Name: Huntington's Disease
Caudate Nuclei atrophy, bilaterally, in patient with Huntington Disease.
(Medical Transcription Sample Report)
Slowing of motor skills and cognitive function.HX:
This 42 y/o LHM presented on 3/16/93 with gradually progressive deterioration of motor and cognitive skills over 3 years. He had difficulty holding a job. His most recent employment ended 3 years ago as he was unable to learn the correct protocols for the maintenance of a large conveyer belt. Prior to that, he was unable to hold a job in the mortgage department of a bank as could not draw and figure property assessments. For 6 months prior to presentation, he and his wife noted (his) increasingly slurred speech and slowed motor skills (i.e. dressing himself and house chores). His walk became slower and he had difficulty with balance. He became anhedonic and disinterested in social activities, and had difficulty sleeping for frequent waking and restlessness. His wife noticed "fidgety movements" of his hand and feet.
He was placed on trials of Sertraline and Fluoxetine for depression 6 months prior to presentation by his local physician. These interventions did not appear to improve his mood and affect.MEDS:
1)Right knee arthroscopic surgery 3 yrs ago. 2)Vasectomy.FHX:
Mother died age 60 of complications of Huntington Disease (dx at UIHC). MGM and two MA's also died of Huntington Disease. His 38 y/o sister has attempted suicide twice.
He and his wife have 2 adopted children.SHX:
unemployed. 2 years of college education. Married 22 years.ROS:
No history of Dopaminergic or Antipsychotic medication use.EXAM:
Vital signs normal.
MS: A&O to person, place, and time. Dysarthric speech with poor respiratory control.
CN: Occasional hypometric saccades in both horizontal directions. No vertical gaze abnormalities noted. Infrequent spontaneous forehead wrinkling and mouth movements. The rest of the CN exam was unremarkable.
Motor: Full strength throughout and normal muscle tone and bulk. Mild choreiform movements were noted in the hands and feet.
Station/Gait: unremarkable, except that during tandem walking mild dystonic and choreiform movements of BUE became more apparent.
Reflexes: 2/2 throughout. Plantar responses were flexor, bilaterally.
There was no motor impersistence on tongue protrusion or hand grip.COURSE:
He was thought to have early manifestations of Huntington Disease. A HCT was unremarkable. Elavil 25mg qhs was prescribed. Neuropsychologic assessment revealed mild anterograde memory loss only.
His chorea gradually worsened during the following 4 years. He developed motor impersistence and more prominent slowed saccadic eye movements. His mood/affect became more labile.
6/5/96 genetic testing revealed a 45 CAg trinucleotide repeat band consistent with Huntington Disease. MRI brain, 8/23/96, showed caudate nuclei atrophy, bilaterally.
consult - history and phy., caudate nuclei atrophy, motor skills, choreiform movements, huntington disease, caudate, nuclei, choreiform, impersistence, huntington's, atrophy,
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