Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Spinal and Bulbar Muscular Atrophy

System/ConcernEvaluationComment
Neurologic Complete neurologic examAssess:
  • UMN involvement: spasticity, Babinski signs, hyperreflexia;
  • LMN involvement: weakness, amyotrophy, fasciculations, EMG.
Musculoskeletal/
ADL
Orthopedics / physical medicine & rehab / PT evalTo incl assessment of:
  • Muscle tone, joint range of motion, posture, mobility, strength, coordination & endurance, pain, bedsores
  • Need for adaptive devices
  • Footwear needs
  • PT needs
  • Need for assistive walking devices (e.g., canes, walker, walker w/wheels, walker w/seat, wheelchairs)
OTAssess:
  • Fine motor function (e.g., hands, feet, face, fingers, toes);
  • Home adaptations for ADL & safety.
Dysarthria For those w/dysarthria: speech/language evalReferral for speech therapy as needed
Dysphagia For those w/frequent choking or severe dysphagia, assess nutritional status & aspiration risk.Consider involving a gastroenterology/nutrition/feeding team, incl formal swallowing eval.
Respiratory
function
By pulmonologistAssess respiratory function & need for respiratory support.
Endocrine
  • Androgen responsiveness: male-pattern hair growth, testicular size, & fertility
  • Assess for gynecomastia.
Consider mastectomy if gynecomastia presents in teenage years or young adult years causing psychosocial stress to self-image / gender identity.
Genetic
counseling
By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of SBMA to facilitate medical & personal decision making

ADL = activities of daily living; EMG = electromyography; LMN = lower motor neuron; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; SBMA = spinal and bulbar muscular atrophy; UMN = upper motor neuron

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Spinal and Bulbar Muscular Atrophy

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