Management Guidelines
No clinical practice guidelines for ANO5-related muscle disease have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs of an individual diagnosed with ANO5-related muscle disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 3.
ANO5-Related Muscle Disease: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Neuromuscular
| Neurologic eval manual muscle force measurement | To establish a baseline for future assessment of disease progression possible need for assistive devices
Muscle imaging (CT or MRI) | To identify pattern of affected muscles in detail
Cardiac
| Cardiac eval incl echocardiogram EKG |
Genetic counseling
| By genetics professionals1 | To obtain a pedigree inform affected persons their families re nature, MOI, implications of ANO5-related muscle disease to facilitate medical personal decision making
MOI = mode of inheritance
1. Clinical geneticist, certified genetic counselor, certified genetic nurse, genetics advanced practice provider (nurse practitioner or physician assistant)
Treatment of Manifestations
No definitive treatments for the limb-girdle muscular dystrophies exist. Management is tailored to each individual and each specific subtype.
Table 4.
Source: GeneReviews — "ANO5-Related Muscle Disease"
