Familial dwarfism and painful muscle spasms is a very rare genetic disorder which is characterized by moderate-severe short stature, painful muscle spams of the limbs and torso, thin, sparse scalp hair, complete absence of body hair, large, low-set ears, broad nose, high-pitched voice, heart ventricle hypertrophy, and high fasting glucose levels. These symptoms usually begin in early childhood.[1] It has been described in two members from a family from Northern Argentina, although the number of affected members could be higher, since the only proof of more family members with the disorder (to be more specific, a double first cousin and the father of the patients) was an oral confirmation from the patients. Said double first cousin and father were not examined.[2]
| Familial dwarfism and painful muscle spasms | |
|---|---|
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| Dwarfism is one of the symptoms of this disorder | |
| Specialty | Medical genetics |
| Prevention | None |
References edit
- ^ Sica, R. E.; Espinoza, R.; Benavente, O.; Sanz, O. P.; Molina, H. (1995). "Familial dwarfism and painful muscle spasms". Medicina. 55 (2): 111–116. ISSN 0025-7680. PMID 7565047.
- ^ "DWARFISM, FAMILIAL, WITH MUSCLE SPASMS". www.omim.org. Retrieved 2022-06-02.
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