Case 30 — CMT1 (Spinal Muscular Atrophy Variant): Functional Gains Through Neuromuscular Training

Charcot–Marie–Tooth disease type 1 (CMT1) is a hereditary peripheral neuropathy commonly associated with progressive sensory and motor impairment. This client had lived with CMT1 for over three years and had previously engaged in more than two years of active treatment elsewhere without meaningful functional change.

Functional strength training following targeted neuromuscular rehabilitation for a client with CMT1, focusing on load tolerance, postural control, and movement confidence.

At initial presentation, the client was unable to stand independently without assistive devices. Clinical features included severe foot drop, absent toe sensation, marked ankle deformity, and progressive difficulty with weight-bearing tasks. Functional capacity had continued to decline, and reliance on external support was increasing.

Care was provided over approximately four months, focusing on graded neuromuscular engagement, postural organisation, load tolerance, and task-specific movement strategies, delivered conservatively and alongside ongoing medical oversight.

During this period, measurable changes in functional capacity and task tolerance were observed within this individual presentation, including:

• Loaded walking tolerance progressing from 2 kg to 10 kg

• Resisted dragging tasks increasing from 2 kg to 11 kg

• Weighted push tasks progressing from 40 kg to 90 kg

• Climbing board participation advancing from 45° at 210 cm to 80° at 270 cm, including short, controlled climbs of up to 160 cm without assistive devices

In parallel, the client demonstrated improved motor coordination, postural control, and confidence during movement tasks. Changes in toe sensory awareness, foot clearance during gait, and ankle positioning were observed during functional activities, suggesting improved neuromuscular coordination and load management, rather than structural or neurological reversal.

While independent standing remained limited, the client was able to maintain brief unsupported standing under controlled conditions. Visible changes in muscle engagement through the trunk, hips, and lower limbs were noted during task execution.

CMT1 remains a progressive neurological condition with highly variable trajectories. The outcomes observed in this case reflect functional adaptation and improved movement capacity, not disease modification or cure. Continued medical management and long-term monitoring remain essential. Clinical Practice: Heal Young Massage

Evidence-based remedial massage and movement rehabilitation services.