Table 4.

Treatment of Manifestations in Individuals with HMERF

Manifestation/ConcernTreatmentConsiderations/Other
Distal leg weakness Ankle-foot orthosesTo optimize independent ambulation
Other mobility aids such as canes, walkers, or wheelchairsMay be required later in disease course
Inactivity Exercises & activities suggested by PT consultationTo prevent continued loss of physical function
Nocturnal hypoventilation Noninvasive ventilation w/BiPAP or CPAP
Respiratory failure Mechanical ventilatory support as needed
↑ susceptibility to respiratory tract infections Influenza vaccination
Gradually progressive nature of this disease OT & social services support

BiPAP = bilevel positive airway pressure; CPAP = continuous positive airway pressure; OT = occupational therapy; PT = physical therapy

From: Hereditary Myopathy with Early Respiratory Failure

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