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Nemaline Myopathy

Name of disease:

Nemaline Myopathy

ICD-10 diagnosis code:

G71.2

Causes:

Nemaline Myopathy is a rare disease with skeletal muscle weakness all over the body. Research shows that nNemaline myopathyis associated with NEB,TPM2 ,TPM3, ACTA ,TNNT1, CFL2 and KBTBD13 gene mutations. These genes are involved producing muscle thin filament structure and their related functions. The severity of weakness is progressive over time. The daily function of patient may be affected with difficulties in feeding, swallowing and walking. Spine, joints and foot problems are also common in patients.

Mode of inheritance:

Depends on causal genes

Prevalence:

1/50,000 1 out of 50,000 on average

Diagnosis:

Skeletomuscular disorder Electromyography or (EMG). This procedure determines if nerve or muscle cells are damaged. Since a common symptom of Nemaline Myopathy is muscle weakness this allows doctors to determine where and why the weakness is occurring. MRI of the Musculoskeletal System - allows physicians to determine if a patient has a certain disease. Muscle biopsy or Needle biopsy - This testing can confirm that muscle cells contain rod like structures.

Age of onset:

All ages.

Common signs and symptoms:

The daily function of patient may be affected Muscle weakness in face, neck and limbs Feeding and swallowing difficulties Foot deformities Abnormal curvature of the spine Joint deformities

Available treatments (medicinal and non-medicinal):

At present, Nemaline myopathy does not have a cure.

Disease management tips:

Multidisciplinary approach is needed, regular see a variety of health professionals including a neurologist, physical therapist, speech therapists and psychologists and others Respiratory insufficiency (permanent or intermittent use of mechanical ventilation and treatment of lower respiratory tract infections) and Feeding difficulties (feeding techniques and calorie-enriched diets). Scoliosis – wear corrective spinal brace Joint contractures - use of a stabilizer, brace Moderate stretching and moderate exercise to help target muscles maintain maximum health Speech therapists speech anomalies Monitor cardiac function Help both the patient and family adjust to everyday life

References:

NORDhttps://rarediseases.org/rare-diseases/nemaline-myopathy/

Other useful websites:

More about the disease:https://en.wikipedia.org/wiki/Nemaline_myopathy