Faculty Advisor(s)

Amy J. Litterini

Document Type

Course Paper

Publication Date



© 2015 Timothy Lira


Background & Purpose: Adult-onset hereditary proximal motor neuropathy (AHPMN) is a subcategory of spinal muscular atrophy, caused by survival motor neuron gene mutation. This rare disease, affecting approximately 1 in 10,000 people, presents as proximal weakness and muscle wasting, more commonly in the lower extremities, in addition to gait unsteadiness and difficulty standing. Additionally, the lifetime risk of developing CHF is one in five; Since the diagnosis poses a risk factor for falling, it may increase the likelihood of falls. Regarding seniors over the age of 65, fall-related injuries increased from 49.4% to 58.8% between 2005 and 2013, accounting for 2.5 million older adults treated in the emergency department for falls. There is limited literature currently describing the physical therapy (PT) management for AHPMN. The purpose of this case report was to document the outcomes of various functional mobility interventions for a geriatric patient with a left tibial fracture, secondary to a fall, with AHPMN and CHF. Case Description: GL was a 77 year-old male with limited baseline activity, who sustained a tibial fracture secondary to falling while walking up a ramp. Significant medical history included AHPMN and CHF. Outcomes: The Lower Extremity Functional Scale, manual muscle testing, and gait pattern assessment were all used to assess the functional progress, with improvements in all three categories demonstrated. Discussion: This case report provides opportunity to describe the PT management of a patient with AHPMN who sustained a tibial fracture. Upon discharge, the patient had achieved all set goals to assist with improvements in independent functional mobility. There is opportunity for further investigation in this area of PT for comparison in the benefits of the interventions performed.


The case report poster for this paper can be found here:




To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.