Slowly developing Spastic paraparesis case

54 year old man who has not seen a doctor in nine years. Then he began having trouble getting on a bus. He developed a limp 3-5 years prior to presentation, could not run or walk. He dragged his feet and tripped. Past history in unremarkable, he has no meds or allergies, his mother walks with a cane for unknown reasons, and his father had CA liver. He does not smoke or drink, lives alone, never married, denies homosexuality or HIV risk factors. Exam shows good strength throughout, with increased tone in the legs more than the arms. He has impaired VS and PS and temperature sensation in his lower extremities to his knees. He has a wide based spastic gait. Reflexes were brisk with bilateral Hoffmann's and Babinski's signs.

Comment-- this on the surface seems an HSP for which Adams and Victor's Neurology says there are 23 + mutations that can account for this. However, the most common is the SPG4 locus at 2p21-p24. HTLV 1-2 were NR. MRI of whole neuraxis was negative. Other eval is pending. What is the differential?

Notes about HSP (several articles/editorial in Arch Neurol June 2004). Age of onset is highly variable, associations in some kindreds include hearing loss, pes cavus, persistent vomiting due to hiatal hernia, delayed BAEP I-III, thinniong of the corpus callosum, and atrophy of vermis of the cerebellum. A few patients were mentally retarded.

HSP (any of 23 mutations)
fluorosis
HIV
HTLV I-II (ruled out)
MS (negative MRI)
Other TM (transverse myelitis) NMO, SLE, others

Any other thoughts?

HyperCKemia

42 year old engineering professor who runs marathons has 3-4 months of numbness in his hands and feet. The lateral fingers and toes become numb. He complains of an intermittent vice like pain in his legs if he sits with the legs dependent. He has had intermittent CPK's with values between 300 and 2000. Examination was normal. Nerve conductions were completely normal as were EMG's. The tentative diagnosis is hyper CKemia.

The patient was offered the option of muscle biopsy which can make a definitive diagnosis in about 18 % of cases. Ultimately, he should not exercise aggressively.

Suggestion was made to take high dose Naproxen sodium before exercising. Any other thoughts? How important is muscle biopsy in the this case?