A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial featuresMental retardation, growth deficiency, midfacial hypoplasia, hearing loss, generalized muscular hypertrophy, joint limitation, and skeletal abnormalities are the cardinal features of this syndrome
Myhre syndrome is a very rare inherited disorder with features affecting many systems and functions of the body. It is characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
A deficiency of myoadenylate deaminase which affects the process of energy conversion which in turn can cause muscle problems.
A rare tumor that tends to occur mainly in the soft tissue and internal body organs. The more common specific locations are soft tissue, mediastinum, pancreas, gastrointestinal and genitourinary tracts, mouth, skin, breast, nerve, bone and central nervous system. The type and severity of symptoms is determined by the location and size of the tumor
Myoglobinuria is the presence of myoglobin in the urine, usually associated with rhabdomyolysis or muscle destruction. Myoglobin is present in muscle cells as a reserve of oxygen.
A dominantly inherited condition which causes high levels of myoglobin in the urine due to destruction of muscle tissue. Episodes of muscle destruction was usually preceded by fever, virus, alcohol us end excessive exercise.
Recurring episodes of high urine myoglobin levels due to muscle destruction. The episodes are triggered by prolong exercise or infection.
KCNQ2 and KCNQ3 are two homologous K+ channel subunits that can combine to form heterotetrameric channels with properties of neuronal M channels. Loss-of-function mutations in either subunit can lead to benign familial neonatal convulsions (BFNC), a generalized, idiopathic epilepsy of the newborn. We now describe a syndrome in which BFNC is followed later in life by myokymia, involuntary contractions of skeletal muscles. All affected members of the myokymia/BFNC family carried a mutation (R207W) that neutralized a charged amino acid in the S4 voltage-sensor segment of KCNQ2. This substitution led to a shift of voltage-dependent activation of KCNQ2 and a dramatic slowing of activation upon depolarization. Myokymia is thought to result from hyperexcitability of the lower motoneuron, and indeed both KCNQ2 and KCNQ3 mRNAs were detected in the anterior horn of the spinal cord where the cells of the lower motoneurons arise. We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC. Myokymia is characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Localized myokymic activity can have its cause in circumscribed disturbances of peripheral nerves or the central nervous system, e.g., in snake poisoning, hypoxia, radiation therapy, pontine tumors, or multiple sclerosis. Generalized myokymia, with or without associated muscle stiffness and delayed relaxation is a feature of Isaacs' syndrome (including acquired neuromyotonia) (1), episodic ataxia type 1 (2), and Morvan's fibrillary chorea (3). In some patients the spontaneous muscle movement occurs without apparent underlying cause, and the frequently positive family history (≈30%) indicates that genetic factors are among the possible causes of idiopathic generalized myokymia (IGM) (4). IGM affects men and women equally, and the disease often comes to their attention because of stiffness, cramps, weakness, and muscle twitching. The clinical features can include generalized myokymia, hyporeflexia, grip myotonia, and calf hypertrophy. The symptoms often improve with carbamazepine or phenytoin treatment
Myopathic carnitine deficiency is attributed to impairment in the active transportation of carnitine from the plasma into muscle cells. Hence, carnitine level is reduced in muscles and is normal or slightly decreased in plasma and liver.
A very rare syndrome characterized mainly by muscle disease and diabetes mellitus. The condition was highly variable with respect to the severity, range and onset of symptoms.
A rare syndrome involving cataracts, reduced hormone production by ovaries or testes and myopathy which mainly involves the facial and muscles close to the trunk.
A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable
A very rare syndrome characterized mainly by muscle disease, retarded growth, mental retardation and abnormally placed urethral opening.
An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the TRIM32 protein .
A rare disorder characterized by muscle weakness and cataracts.
A rare disorder characterized mainly by muscle weakness, paralysis of eye muscles, lack of reflexes and partial hearing loss.
A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
A rare muscle disorder where certain muscle cells (type I muscle fibers) are destroyed.
A rare inherited disorder characterized by nonprogressive muscle weakness from birth as well as the Moebius (congenital facial palsy with impaired ability to move eyes) and Pierre Robin sequence (underdeveloped jaw, cleft soft palate, abnormal tongue position).
A very rare neuromuscular disorder involving the buildup of a certain protein called desmin in various muscles. The severity and rate of progression of the disorder is variable.
A rare inherited disorder characterized by easy bone fracturing, poor healing of fractures and progressive weakness of the limb-girdle muscles. The fractures tend to occur before the muscle problems. The slow-healing fractures sometimes resulted in osteomyelitis and limb amputation .
McArdle's disease is caused by deficiency of the muscle-specific isoform of phophorylase enzyme. The enzyme splits glucose-1-phosphate from glycogen to fuel the glycolytic pathway needed for muscle activity. McArdle's disease, although being the commonest form of glycogenosis affecting skeletal muscle, is a rare disease. The disease is typically manifested in childhood/adolescence by exercise intolerance, muscle cramps/pain with the classic "second wind" phenomenon (improvement of symptoms after a short period of slowing down or rest). McArdle's disease with late-onset presentation is very rare and clinically more variable in its presentation than the early onset disorder. The disease may escape clinical diagnosis until progressive or persistent muscle weakness or atrophy occurs at advanced age. We report an atypical case of McArdle's disease diagnosed at the age of 65 years in a patient presenting with progressive fixed proximal muscle weakness with no previous history of episodic muscle dysfunction and discuss the clinical-pathological aspects of the disease
A muscle condition characterized by aggregates of tubular structures in muscle tissue which can cause muscle problems such as camps and pain after exertion.
An inherited muscle disease characterized by very slow-progressing muscle weakness. Because the condition is X-linked, females may be asymptomatic or display only mild symptoms whereas males have display the complete extent of the symptoms
eyesight abnormality resulting from the eye's faulty refractive ability; distant objects appear blurred.
A severe infantile form of myopia (nearsightedness). The vision problem is occurs at birth or in the first few months of life.
A severe form of myopia (nearsightedness).
Myositis ossificans is the formation of bone in an area bruised by injury. This usually occurs in the arm or thigh. Myositis ossificans develops in 10% to 20% of thigh contusions. Myositis means inflammation of muscle, and ossificans means bone. A contusion to the arm or thigh causes bleeding, and a clot of blood (hematoma) forms, usually within the muscle. This hematoma then may become bone.
A calcified mass that can occur in soft tissue or muscle following a trauma to the area. The trauma may result from such things as mechanical injury or tendonitis. The symptoms are determined by the location and size of the lesion.