| Disease Name | autosomal recessive (AR) | | NMD Category | Congenital Myopathy | | Clinical Onset | at birth | | Clinical Findings | The muscles of an infant born with CFTD are unusually weak and hypotonic. The weakness is diffuse, but pharyngeal and ocular muscles are spared. As the disease progresses, other major symptoms may include scoliosis, long thin face, fish mouth, high arched palate, short stature, low body weight, joint laxity, neonatal hypotonia, congenital myopathy, respiratory distress, dolichocephalic head, and multiple skeletal deformities, especially hip dislocations and talipes equinovarus. Multiple joint contractures are also frequent. The tendon reflexes are hypoactive or absent. Mental development is normal.
Helpful links:
Medical Dictionary.
| | Diagnostic Work-up | Muscle biopsy shows small type I fibers and compensatory hypertrophy of type II fibers. Type IIB fibers are lacking. Normal or slightly elevated creatine kinase. Normal EMG.
Differential Diagnosis: may be associated with cerebellar hypoplasia, fetal alcohol syndrome, Krabbe's disease, nemaline rod myopathy, rigid spine syndrome. Some neuromuscular disorders, particularly the dystrophies, can produce symptoms resembling those of CFTD. | | Treatment Notes | Treatment of Congenital fiber type disproportion may consist of active and passive exercises and physical therapy to promote muscle function. Functional improvement usually occurs as the patient matures. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
Progression: The prognosis is relatively favorable in most patients. However, there are cases in which the same histological features are associated with slowly progressive weakness from childhood, rigid spine syndrome, or severe and progressive motor involvement with kyphoscoliosis and respiratory insufficiency. | | Protein ID | 1 | | Gene Location | unknown | | Abstract | Congenital fiber type disproportion (CFTD) is a rare genetic muscle disease affecting the growth of type I muscle fibers, and signs of the disease are apparent at birth.
It is autosomal recessive, so boys and girls are affected equally. Autosomal recessive inheritance requires that both the mother and father have at least one copy of an altered gene located on one of the 22 autosomes (that is, not the X or Y chromosomes). These parents may be carriers who show no signs of the disease (i.e., each has one copy of an altered gene), but they have a 25% chance of producing either a normal child or a child with the disease; they have a 50% chance of producing offspring who are carriers with no signs of disease. Two affected parents (i.e., each has two copies of an altered gene) usually produce children all whom are affected.
| | Synonyms |
Warning: odbc_result() [function.odbc-result]: Field SearchTerm not found in C:\Inetpub\wwwroot2006\disease_deatails.php on line 84
| |
