It is rare, inherited in an autosomal pattern, which causes degeneration of the nerve fibers. There is generalized muscle weakness and destruction. It affects men and women equally and is divided into four sub-categories:
A. Classical form: (75% of cases) Symptoms start at birth and include eating problems, scoliosis, hypotonia, slow movement, respiratory problems and heart failure.
B. Developing form with hand engagement (10%): There is less severe scoliosis with mild or no respiratory problems. There is hyperextensibility to the joints and muscle weakness in the hands.
C. Embryonic form with congenital multiple arthritis: (> 10%) The main symptom at birth is muscle tenderness. Perhaps there are special physical features such as big head, low position of ears and short neck, as well as respiratory problems.
D. Ophthalmoplegical form: Bleeding occurs due to weakness of the respective muscles and weakness in muscles close to the body.
The diagnosis can be made by muscle biopsy, muscle ultrasound.
There is no cure, but symptoms are managed by physiotherapy, exercises, respiratory care using ventilators, corrective orthopaedic procedures and use of feeding tubes. Vaccines for respiratory protection are recommended.
Congenital fiber type disproportion
It is a rare congenital myopathy. The main symptoms, like all myopathies, are loss of muscle tone (hypotonia), generalized muscle weakness, slow movement of the muscles, scoliosis, hip dislocations, muscle contractures and lack of reflexes, particular facial features such as long and thin face, weak muscles , arched palate. In more serious cases there is dysphagia and severe respiratory problems (rarely and cardiomyopathy). Ophthalmoplegia also occurs in 20% of cases.
Diagnosis is performed by clinical examination by specialists, muscle biopsy, electromyography, muscle ultrasound.
Treatment is symptomatic and supportive with appropriate physical therapy for muscle strengthening and contractions, as well as orthopedic care and interventions for correction of lesions.
Congenital Myopathy Batten - Turner
Extremely rare, hereditary myopathy (autosomal recessive) characterized by congenital hypotonia and its symptoms develop slowly during infancy and childhood.
Progressive hypotonia and generalized weakness. Slow development of milestones and scarcity in falls and storms. The weakness mainly concerns muscles of the pelvis, shoulders and throat. Since it does not develop during adulthood, most adults are ambulatory, although some physical activities may have been affected.
Treatment includes appropriate physical therapy, exercises and obesity avoidance.
Myosin Storage Myopathy
It is inherited in an autosomal dominant pattern. It is characterized by a weakness that either does not worsen or develops very slowly. Usually its symptoms are perceived during childhood or later. Since can delay the acquisition of walking ability, it is necessary to walk with the assistance of a walking stick, there is a difficulty in climbing a ladder and raising hands above the shoulders. There is arched palm and scoliosis. Respiratory problems may also occur.
Other Congenital Myopathies
It is an autosomal dominant myopathy that affects the skeletal muscles. There is muscle weakness, hypotonia throughout the body, but mainly the muscles of the face, throat and limbs are also progressively affected. In addition, there is difficulty in swallowing, feeding from the neonatal age, in movement, difficulty breathing, bleeding, delayed development and skills, large curve of hard palate, characteristic long face and scoliosis / lordosis may also develop.
2. Myotubullar Myopathy
It is autosomal dominant myopathy and belongs to the spectrum of muscular dystrophies, affecting mainly skeletal muscles and heart with progressive muscular weakness of any age, but mainly from middle-age life. Cardiomyopathy, myalgia, peripheral neuropathy and respiratory failure may develop. Growths, scoliosis and rarely cataracts may develop.
3. Brody Myopathy
It is an autosomal recessive myopathy in which muscle cramps, muscular stiffness, mainly in the hands, feet, face (especially on the eyelids), especially after exposure to low temperatures beginning with childhood, are present.
4. Peripheral myopathy type 2
It is an autosomal dominant myopathy in adults and there is weakness in the neck, arms, legs that can be expanded and weakness develops on the vocal cords, affecting speech and also results in dysphagia.
5. Cavoline 3 Myopathy (Tateyama type)
It is autosomal dominant myopathy, manifested by atrophy, weakness of distal muscles in the hands and feet that starts in adulthood and is characterized by painful contractions.
6. Peripheral myopathy type 1 (Laigh peripheral myopathy)
It is an autosomal dominant myopathy, affecting skeletal muscles progressively from childhood, starting from the legs and ankle muscles and extending to the upper limb muscles, where tremor is seen as well as influence on the neck and face muscles.
7. Cumulative tubular myopathy
It is mainly autosomal dominant myopathy, but rarely can also be autosomal recessive. There is progressive muscle pain, cramps and weakness from childhood, starting mainly from the lower extremities. In addition, there is difficulty in moving and contractures.
8. Hereditary myopathy with early respiratory failure (HMERF or Edstrom myopathy).
It is an autosomal dominant myopathy, affecting skeletal and respiratory muscles since the age of approximately 30 years old. There are respiratory and motor complications.
9. Hereditary myopathy with lactic acidosis
It is an autosomal recessive myopathy and affects skeletal muscles. Symptoms start early during childhood and involve muscle weakness, muscle pain, fatigue, tachycardia, frivolous breathing and rhabdomyolysis.
10. Early myopathy with cardiomyopathy (Salih myopathy or Salih congenital muscular dystrophy or tetanus)
It is an autosomal recessive myopathy and affects skeletal and cardiac muscle. Muscle weakness begins from neonatal age, delay in motor milestones, and later on contractures, scoliosis and diastolic cardiomyopathy develop.
11. Sensory disorder with myoclonic epilepsy and myopathy (MEMSA or SCAE)
It is an autosomal recessive myopathy that affects muscular - nervous - cerebral functions early during adulthood. Initially, problems with balance and orientation are present and also recurring and abrupt spasms (myoclonus) that focus on the right hand first and expand. Encephalopathy and myopathy develop.
12. Μitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
It is a mitochondrial disease that affects females and males alike, causing problems in many systems, but mainly in the brain, nervous system and muscles. Symptoms start from childhood with muscle weakness, pain, recurrent headaches, loss of appetite, vomiting and epileptic seizures. In severe cases, patients experience stroke-like symptoms before the age of 40 years. Recurrent episodes can progressively cause problems in the brain, leading to blindness, motor problems and dementia. Most patients experience lactic acidosis, which can lead to vomiting, abdominal pain, burning, muscle weakness and shortness of breath and rarely may occur with muscle spasms (myoclonus), ataxia, deafness, heart and kidney problems, diabetes and hormonal disorders.
The diagnosis can be made by genetic testing.
For the Standards of Care you may visit the following article: https://drive.google.com/file/d/11iOxRi9jCtlNEXp9ihHhTKJJgZGUrIe8/view?u...
To monitor clinical trials on diseases visit: https://clinicaltrials.gov/ct2/home
Muscular Dystrophy Association