Multiminicore muscular dystrophy is a genetic neuromuscular disease primarily affecting the skeletal muscles. It usually gets evident in infancy or early childhood as the child has a muscular weakness. It is characterized by spinal rigidity, the excessive curvature of the spine (scoliosis), and respiratory impairments.
Cause
The major cause which is pointed out in half of the cases of multiminocore muscular dystrophy is a genetic error in the SEPN1 and RYR1 genes. It is inherited as an autosomal recessive pattern which means that both the parents must carry the genetic error to affect their child. Although the parents remain asymptomatic.
There are four subgroups of minicore myopathy
1) Classic form
2) Progressive form with hand involvement
3) Antenatal form with arthrogryposis multiplex congenita
4) Ophthalmoplegic form
Clinical features
The classic form commonest group accounts for 75% of minicore myopathy. The onset is usually at birth or at the initial few months after birth. It presents the following symptoms
1) Muscular weakness and delay in achieving the motor milestones (walking, talking, speech, etc.)
2) Some infants have a problem in feeding, hence a feeding tube is usually required
3) Generalized weakness, but weakness around the neck muscles and trunk is more severe
4) Excessive curvature of the spine (scoliosis) is common
5) Underdeveloped respiratory muscles causing breathing difficulty
Diagnosis
Muscle biopsy is the basis for diagnosing this disorder. Multiple structures called “cores” can be seen in the muscle fibers under the microscope. CPK levels are usually normal.
Prognosis
The progression of this condition may vary among individuals. In some people, the condition may remain static while in others the muscle weakness may be progressive. In patients with a classic form of myopathy, scoliosis may be progressive which leads to a decline in respiratory function. It has been noted that most of the cases become stable in late childhood and many people continue to walk in adulthood in spite of scoliosis.
At Life Force, we have recorded one case of a 13-year-old boy with multiminicore muscular dystrophy (Patient identification number: 33986). He was diagnosed at the age of three years when his parents observed neck tilting at one side. After consulting a neurosurgeon, a muscle biopsy was advised where it was confirmed to be a case of SEPN1 mutation. The parents and patient’s brother were also screened for the same who were found to be carriers of the SEPN1 gene, though asymptomatic. The CPK levels were normal. The child presented with the following symptoms
- Progressive scoliosis but could walk independently without any support.
- Muscle tone was reduced due to which there was slowness in his movement. Slow chewing and complete mouth opening were difficult.
- He was using a face mask due to breathlessness whenever he required it.
- Gastrostomy was done since there was difficulty in swallowing food. A feeding tube was inserted from where food was introduced.
- Reflux oesophagitis
- Frequent cough and cold
- Pulmonary hypertension
- Used reading glasses for near vision.
Conventional treatment
There is hardly any promising treatment specifically for this condition. Symptomatic management is the main course of treatment. Treatment of scoliosis through exercise and corrective surgery is advised. A face mask is advised for a patient having breathing difficulties. To prevent choking during swallowing a feeding tube is advised to give food and fluids directly into the stomach.
Homeopathic treatment
Homeopathy aims at preventing and controlling the further progress of the disease through certain medicines. There are medicines that have an affinity towards the neuromuscular system that help in controlling the further deterioration of muscles and nerves. Homeopathic treatment is more of a supportive therapy that is administered to improve the general health condition of the patient thereby improving his immunity and resistance towards recurrent infections. The progressive muscular weakness could be slowed down and the quality of life of the patient could hence be improved.