This is a 6 year-old boy referred for an evaluation of clumsiness. The parents were not aware of any problems, but the child’s teacher was concerned that he could not keep up with the other children in the class. In retrospect, the parents admit that the boy has always been a bit awkward and at times has walked on his toes. The parents deny that their son is weak but on further questioning they state that he does climb stairs one-by-one and frequently holds onto the banister. His language and cognitive development have been appropriate.

PMH: He was the product of an uneventful pregnancy, labor and delivery. He has had no significant illnesses and he has had all immunizations.

Medications: None

Allergies: NKDA

Family History: He is the only child in the family. There is no history of weakness, or neurologic disability in the family.

Social History: Non-contributory.

Physical:
BP 102/62   HR 82   T 36.8°C  RR 20
General: Weight, height and head circumference are all at the 50th percentile.
Mental Status: Age appropriate
HEENT: PERRL, EOMI, no nystagmus. Facial sensation and strength are normal. Palate and tongue are at midline.
Motor (Power/Tone/Bulk): Strength and tone in the arms is normal. There is mild proximal weakness in the legs with a positive Gower’s sign. Distal leg strength is normal. The calves are prominent.
Sensory: Normal
Reflexes: 2/4 at biceps, triceps, brachioradialis, knees and ankles. Toes are downgoing to plantar stimuli.
Coordination: Normal
Gait: Gait is without ataxia, but there is an exaggerated lumbar lordosis.
Abnormal Movements: None
OtherOrgans: The general physical examination is unremarkable. Specifically there are no neurocutaneous lesions, no organomegaly, the head is normocephalic, the back and spine are straight, and there are no dysmorphic features.