neuro Q16 - tacrolimus99

[ArchivalUser]

An 18-year-old woman is evaluated for progressive gait difficulties and intermittent falls. She has no accompanying numbness or tingling. She states that she has always been rather clumsy and that her mother developed similar symptoms in her teens and now requires braces in order to walk.

On examination, the patient has severe distal upper- and lower-extremity weakness and atrophy and decreased vibratory sensation in the distal upper and lower extremities. Reflexes are diffusely absent. Examination of her feet reveals high arches and hammertoes.

Which of the following is the most likely diagnosis?

A Hereditary sensorimotor neuropathy
B Vasculitic neuropathy
C Spinal muscular atrophy
D Limb-girdle muscular dystrophy

[ArchivalUser]

A.. CMT ds

[ArchivalUser]

¢Hereditary sensorimotor neuropathy (Charcot“Marie“Tooth disease is an autosomal dominant disorder that usually presents with clumsiness or difficulty running in the first decade of life, characterized by distal muscle atrophy, weakness, and sensory loss associated with high arches (pes cavus) and hammertoes.

¢Vasculitic neuropathy generally presents during adulthood with acute, asymmetric weakness and sensory loss associated with severe pain.

¢Spinal muscular atrophy is a hereditary motor neuron disorder that can present throughout childhood and early adulthood not associated with any sensory abnormalities and generally presents with symmetric, proximal muscle weakness and atrophy.

¢Limb-girdle muscular dystrophy may be an autosomal dominant or recessive disorder that presents with symmetric proximal weakness and normal sensation
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[ArchivalUser]