Kennesha Louise-Spinocerebellar ataxia type 14 (SCA-14)-(Indonesia)

Patient Name: Kennesha Louise
Gender: Female
Age: 13 years
Nationality: Indonesia
Diagnosis: Spinocerebellar ataxia type 14 (SCA-14)

Condition upon Admission:
The patient was admitted primarily due to "gait abnormalities and instability while walking, accompanied by muscle weakness for over 4 years," diagnosed as "spinocerebellar ataxia."

Physical Examination upon Admission:
The patient's blood pressure was 112/73 mmHg, and heart rate was 88 beats per minute. There was no jaundice observed on the skin. Lung auscultation revealed clear breath sounds, with no obvious dry or moist rales. Heart sounds were strong and rhythmic, with no significant murmurs in any valve area. The abdomen was soft, and the liver and spleen were not palpable below the rib cage. There was no edema in the lower extremities.

Neurological Examination:
The patient was alert but appeared anxious. Her speech was slow and somewhat unclear. She showed slow responses in memory and calculation, with orientation largely intact. Both of her pupils were 3 mm in diameter and reacted well to light. There was bilateral horizontal nystagmus, and visual fields were normal. The symmetrical forehead wrinkles indicated no facial asymmetry, and her chewing muscles were symmetrical and strong. The nasolabial folds were equally deep, and the corners of her mouth were not deviated. Her soft palate elevated well, and her uvula was centered. She could puff her cheeks with strength and her tongue was midline. Her hearing was normal. Her neck rotation and shoulder shrug strength were weak. Muscle strength was grade 3 for her left upper limb and grade 3+ for her right upper limb; her left lower limb had a strength of grade 2 and her right lower limb grade 2+. She could move her lower limbs but was unable to lift them or stand. Muscle tone in her limbs was generally normal. Tendon reflexes in her limbs were slightly diminished. The Babinski sign was positive in her both lower limbs. Her both deep and superficial sensations were normal. The finger-to-nose test was shaky and unstable, while rapid alternating movements were clumsy. The heel-to-shin test and the closed-eye stance test could not be assessed due to muscle strength limitations. She was unable to stand or walk. Her balance was poor, leading to frequent falls. Meningeal signs were negative.

Treatment Process:
The patient was diagnosed with "Spinocerebellar Ataxia Type 14 (SCA-14)" upon admission. She was given CAST therapy and a combination of neural stem cells and mesenchymal stem cells. This treatment aimed to repair cerebellar and spinal cord nerve damage, nourish the nerves, improve the internal environment, and regulate immunity, along with comprehensive rehabilitation therapy.

Post-Treatment Outcome:
The patient's symptoms shows significant improvement. Her speech rate is increased, and the nystagmus noticeably decreased. The dexterity in her hands is improved significantly, and her performance on the finger-to-nose test becomes markedly more stable and accurate. There is a reduction in hand tremors, and her limb strength increased. She demonstrates a significant enhancement in leg lifting strength, with muscle strength in the lower limbs increasing from a grade 2 at admission to grade 4. She can maintain a 90-degree flexion support for 10 seconds and stand for about 3 seconds. With the assistance of a walker, she is able to walk short distances.