INFANTILE SPINAL MUSCULAR ATROPHY

TYPES

Infantile spinal muscular atrophy is determined based on the signs and age you start to acquire the illness.

Type 0. This type produces very little SMN. Even before delivery, a mother may detect a slowing in her child’s activity.

Type 1. This type typically manifests itself during birth or soon after. It causes difficulties with swallowing, breathing, and sucking in babies.

Type 2. This type may be vulnerable to 7 and 18 months old babies. Besides, they’ll be able to sit down without assistance. However, since muscular weakness is most noticeable in the legs, they will need assistance walking.

Type 3. This type affects older children and teenagers who have learned to walk but are unable to do so later in life. Respiratory problems and scoliosis may also occur. 

Type 4. This type occurs in older adolescents or adults.

SYMPTOMS

The most common symptoms of infantile spinal muscular atrophy include:

• Muscular weakening and a loss of muscle tone
• Restricted mobility
• Breathing difficulties
• Feeding and swallowing difficulties
• Delayed development of gross motor abilities
• Tongue motions that occur on their own
• Scoliosis

DIAGNOSIS

By evaluating symptoms, medical history, and doing physical exams, the doctor can diagnose infantile spinal muscular atrophy. This condition also necessitates testing, which includes:

• Saliva examinations
• Blood tests
• Muscle biopsies are a kind of biopsy that is performed on muscles
• An electromyogram (EMG) 

TREATMENT

Treatment for infantile spinal muscular atrophy is determined by the condition of the patient. Besides, the FDA has authorized three medicines for the treatment of SMA including:

• nusinersen (Spinraza)
• onasemnogene abeparvovec-xioi (Zolgensma)
• risdiplam (Evrysdi)