Eduardo Adrian Escalaon-Hereditary spinocerebellar ataxia type 3 (SCA-Ⅲ)-(Chile)

Patient's name: Eduardo Adrian Escalaon
Gender: Male
Age: 39 years old
Nationality: Chile
Diagnosis: Hereditary spinocerebellar ataxia type 3 (SCA-Ⅲ)

Admission status:
The patient was admitted for "progressive balance disorder with involuntary movements for more than 4 years" with a diagnosis of "Genetic Primary Progressive Ataxia Type 3 (SCA-Ⅲ)". His main symptoms included: progressive balance disorder, unstable gait while walking, wide and slow step base; sometimes, his hands felt weak, especially his left hand; there were involuntary movements of the head and hands, and intentional involuntary movements were more prominent. He currently took Medopa, Sinforal, and Relizol, with a general effect. His mother and multiple aunts in his family have this disease.

Physical examination upon admission:
The patient's blood pressure was 131/75 mmHg, and his heart rate was 70 beats/minute. There were no significant abnormalities found in his general internal medicine system.

Neurological examination:
The patient was clear in his mind, with basic language skills intact. There was mild impairment in his short-term memory and calculation ability, with errors being made in two-step subtraction tasks within the range of 100. His orientation was normal. His pupils were 3mm in diameter and responded promptly to light stimuli. His visual field was normal, with no nystagmus. The nasolabial folds were symmetric and the lips did not show any deviation when smiling. There was good muscle strength in raising the soft palate, with the uvula in the midline. The tongue was extended and showed normal movements. His range of motion in neck and shoulders was relatively normal. His left upper limb muscle strength was grade 4, and his right upper limb muscle strength was grade 4+ with normal muscle tone and tension. His lower limbs had grade 4+ muscle strength, with no obvious atrophy in the four limbs. His muscle tone and tension were generally normal. His bilateral tendon reflexes were basically normal. There was no evidence of pathological reflexes. Sensation in both the limbs was largely normal, except for slight difficulties with deep touch. He had poor balance, which led to unsteady walking and wide step size, slow walking speed. There were involuntary movements of his head and hands, predominantly in the directional tendency, especially on his left side. His bilateral finger to finger and alternating rapid palmar test were slightly clumsy, and his left hand was more affected. His finger-nose, heel-knee-shin tests were less stable and accurate. Standing on one foot was essentially impossible, and walking in a straight line was prone to falling. His meningeal irritation sign was negative.

Treatment process:
The patient was admitted with a clear diagnosis of "hereditary spinocerebellar ataxia type 3 (SCA-Ⅲ)". He was given CAST treatment and a combination of two types of stem cells, neural stem cells and mesenchymal stem cells, for the repair of cerebellar and spinal cord nerve lesions, nerve nutrition, improvement of the body's environment, immune regulation, along with comprehensive rehabilitation treatment.

Post-treatment:
The patient's balance and coordination function has improved significantly, with the balance-of-standing test becoming negative. His postural control ability has improved significantly compared to before treatment. He can now stand on one foot for up to 20 seconds and resist certain resistances while doing so. His muscle strength and coordination in his limbs have increased to grades of 5- to 5, indicating an improvement in muscle tone and motor function. His upper limb finger-nose test, rapid alternating test, and finger to finger test are now essentially normal, indicating improved motor speed and sensitivity. His heel-knee-shin test is more stable and accurate compared to before treatment. His gait has improved, with a faster walking speed, and he is able to participate in badminton playing. His oral levodopa dosage has been significantly reduced.