Patient Chart
Patient ID: 0000
DOB: 09/24/1975
Age: 39 years
Gender: M
Progress Notes
.D: 10/11/14 : 04:55pm
.T: Followup
Neurology Specialists of Jupiter
601 University Boulevard
Suite 102
Jupiter, FL 33458
Phone: (561) 627-3381
Fax: (561 627-3384
I have discussed with the patient in the past that he is unlikely to have a disorder that has a therapeutic intervention.
The patient still strongly desires to pursue further testing in hopes of putting a label on his condition. I have requested a muscle biopsy of the right deltoid to see if he might have a mitochondrial disorder accounting for his central and peripheral nervous system dysfunction.
# SIGNED BY Mark Stafford (JMS) 10/11/2014 05:02PM

Patient Chart
Patient ID: 0000
DOB: 09/24/1975
Age: 39 yearsGender: M
Progress Notes
.D: 07/18/14 : 11:51am
Neurology Specialists of Jupiter
601 University Boulevard
Suite 102
Jupiter, FL 33458
Phone: (561) 627-3381
Fax: (561) 627-3384
History Present Illness:
Subjective: Chief complaint of:

1. “Functionally I am now quadriplegic” verbally to the examiner
The patient was last seen on February 26, 2009 for his childhood onset, age 4, progressive nonfamilial ataxic neuropathy, dysarthria, and severe truncal and extremity tremor.

His laboratory testing for Friedreich’s ataxia, CMT, spinocerebellar ataxia 1-2-3-6-7-8-10-17-DRPLA, fragile X., and longchain fatty acids have all been negative. His lactic acid was 0.9 B12
level 533. His vitamin D level was low at 13.4. Vitamin E was high at 16.3.He had an EMG on May 26, 2009 that revealed absent motor and sensory evoked responses in the upper and lower extremities except for his left median CPAP which was 0.053 millivolts and median SNAP of 2.9 µV. EMG revealed single firing units in those muscles tested of the left upper extremity.
Denervation changes of the left deltoid and biceps. The findings are interpreted as a severe peripheral motor and sensory neuropathy. It denervation changes in the deltoid and biceps raised the possibility of a superimposed left C5-6 radiculopathy versus related to his severe peripheral neuropathy.

An MRI of the cervical spine on May 18, 2009 that revealed abnormal intrinsic cord signal from C3-C6 of uncertain origin. Since his last evaluation he has had progressive weakness of both upper extremities. He fell in 2013 fracturing both legs requiring surgical intervention in both lower extremities. He significantly lost motor functions in his upper extremities after this injury. He is no longer able to raise his right arm. He has enough function that he can sometimes he himself if been eating utensil is tied onto his hands and he bends his head to the eating utensil. Otherwise he has a caregiver that feeds him. He has a caretaker 30 hours a week. He is still capable of operating a computer. He finds his mind is sharp. He denies vision changes, hearing loss, difficulty swallowing, dizziness, or bladder control problems.

General Review of Symptoms:

Constitutional: Patient denies fever, chills or, night sweats

Eyes: No blurred vision, double vision, or eye pain

Ears: Normal except for positive trouble hearing

Cardio: Normal except for positive leg swelling

Pulmonary: No shortness of breath,wheezing, freq cough, coughing blood

Gastrointestinal: No abdominal pain, unexp wt loss, constipation, diarrhea, bloody stools

Genitourinary: No urinary incontinence, urinary urgency, painful urination, bloody urine

Musculoskeletal: No pain in multiple joints and muscles, low back pain, neck pain

Neurological: No headaches, dizziness, progressive memory loss, trouble speaking, trouble stancing, unsteadiness, numbness or tingling, tremors, trouble swallowing,

Neurological: Normal except for positive trouble speaking, positive numbness or tingling, positive tremors

Psychiatric: No depression, anxiety, suicidal thoughts, hallucinations

Hematologic/Lymphatic: No swollen lymph glands or unexplained ained skin rashes

Endocrine: No excessive fatigue, excessive thirst, breast lactation

Past Medical History:
Muscle Disorder or, Muscular Dystrophy, Peripheral Neuropathy, Edema
Surgical History: ACDF 2009, Spinal Reconstruction 1992, Bilateral Tendon Transfer 1984, Left Femur Fracture 2013, Right Tibia Fracture 2013

Cancer History:None indicated

Social History:

Marital status: Single
Are you currently a smoker? No,
Were you ever a smoker? No, Never
Do you consume alcoholic beverages? currently drinks alcohol
.CE: Alcohol Amount: 2-3 drinks/wk
Education: Completed University, BA in Political Science

Family History:
Peripheral Neuropathy: Yes,
Hand Tremors: Yes,
Muscular Dystrophy: Yes,
Current Medications: The patient is on no medications

Medication Allergies:
No known medication allergies
Allergy history last updated on 07/18/14

Physical Exam:
Vital Signs:
Bp: 120/74, Left Arm, Pulse: 64
Height: 6′, Weight: 165 lbs
Respirations: 15
Smoking Status: Never
BMI: 22.40 kg/m2
BMI: 22.40 kg/m2
BMI is within normal limits
.CE: BMI Plan : N
Carotid Bruit: No bruits.
Cardiac: RRR, no murmur or gallop.
General Appearence: Patient appears their stated age. Patient was in no distress. normal weight for height

Neurological Exam:
Affect: Pleasant.
Orientation: Patient was oriented to the Year, Month, Date, Day of the Week, City, and State.
Memory: Patient was a good historian with good recall of details of recent and past medical history.
Attention & Concentration: Intact for example was able to spell “world” forwards and backwards properly
Fund of Knowledge: Intact for basic knowledge ie name of the President of USA.
Language: A scanning dysarthria was present. moderate severe
Language: Intact without aphasia.

Cranial Nervous (CN)
CN II:Visual fields were intact to finger count vision.
Fundi: The optic disc were normal in color and well demarcated without papilledma.
APD: None
Horner’s: None
Right Pupil was 4mm and reactive.
Left Pupil was 4mm and reactive.
III, IV, VI: Normal and full ocular motility was present (taking in account for normal age related mild decreased upgaze in the elderly).
Nystamus: No pathological nystagmus.
V: Normal
O. Oculi Strength 5/5 bilaterally.
IX-X: Normal
Neck Flexors: 5/5 MRC
Neck Extensors 5/5 MRC
XII: Normal

Fine Motor:
Arm Roll:Symmetric: Arm Roll was not tested.
Finger tap was not tested.
Tone: Motor tone was normal in all four extremities. Motor tone was normal in both upper extremities. Motor tone was checked with reinforcement.
Other: He demonstrates good truncal support being able to sit in a wheelchair without side support.

Detailed Motor Strength Exam:
Upper Extremity:
right left Upper
right left
deltoid 2 0 Infraspinatus
biceps 5/5
2 supinator
triceps 5/5
3 pronator teres
5/5 0 wrist flexors
1 0 extensor
first dorsal
0 0 abductor

hand grasp flexor pollicis
digiti minimi
supraspinatus flexor

Lower Extremity:
right left Lower
right left
hip flexors 0 0 hip abductors
0 0 hip adductors
knee flexors 0 5/5
toe extensors
dorsi flexors 5/5 5/5 toe flexors
0 0 foot invertors
hip extensors foot evertors
Upper Extremity: right left
brachioradialis reflex Absent Absent
biceps reflex Absent Absent
triceps reflex Absent Absent
Hoffman’s sign
Lower extremity: right left
patellar reflex Absent Absent
Achilles tendon reflex Absent Absent
Babinski sign Negative Negative
Involuntary Movements:
Postural Hand Tremors: None bilaterally.
Head Tremor: Moderate head tremor.
Resting Hand Tremors: None bilaterally.
Cerebellar Function:
Finger to Nose testing was not performed.
Vibration: There was no to only trace vibratory sense at both ankles. Vibration was present at both knees for less than 3
GAIT: Patient is wheel chair bound.

#1. Childhood onset progressive neuropathy with progressive quadriparesis, ataxia, scanning dysarthria and cerebellar type head and previous arm tremors. He has a profound peripheral motor and sensory neuropathy. His tremors are likely related to his marked decreased proprioception. He has a Friedreich’s ataxia phenotype but laboratory testing has been negative for Friedreich’s ataxia.

Other significant normal laboratory evaluations include genetic testing for CMT, spinocerebellar ataxia 1-2-3-6-7-8-10-17-DRPLA, fragile X., plus his longchain fatty acids have all been negative. His lactic acid was 0.9 B12 level 533. His vitamin D level was low at 13.4. Vitamin E was high at 16.3 He has
some white matter changes identified in his cervical cord.

# SIGNED BY Mark Stafford, D.O. (JMS) 07/18/2014 07:34PM

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