In pathologic terms, the disease was characterized by loss of anterior horn cells

y, particularly in patients with slow progression.

I ) The goals are to maximize the patient’s independence and quality of life at each stage of the disease.

J ) The treatment of patients with adult-onset spinal muscular atrophy is similar to that for amyotrophic lateral sclerosis (ALS), except that the course and life span in spinal muscular atrophies is considerably longer.

K ) A multidisciplinary approach is essential.

L ) Once diagnosis is reached, overnight oximetry, respiratory muscle function tests, cough effectiveness, forced vital capacity (for patients >5 years), swallow study with video, physical and occupational therapy assessments, assistive equipment evaluation, and hip/spine radiography are appropriate.

M ) Recognition of mandibular dysfunction manifested as limited mouth opening is an important factor in prevention of aspiration.

N ) Interventions such as chest physiotherapy, assisted cough, nocturnal (+/- daytime) noninvasive ventilation, and Nissen fundoplication for nonsitting patients may be considered.

O ) The use of splints, bracing, and spinal orthoses can be customized to each patient.

P ) Wheelchair use should be determined by patient’s level of fatigue with activity as well as their rate of falling.

Q ) Women with SMA who become pregnant have no increased risk of miscarriage or hypertensive diseases. Higher rates of caesarian delivery (42.5%) and preterm deliveries (29.4%) have been observed.

1 Approximately one third of patients noted deterioration of symptoms during pregnancy. [13]

2 Specific pharmacologic therapy is not available.

3 Gene-specific therapy is not yet available