Native American myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY, CONGENITAL, WITH CLEFT PALATE AND MALIGNANT HYPERTHERMIA
NAM
Congenital myopathy - cleft palate - malignant hyperthermia
Number of Symptoms 31
OrphanetNr: 168572
OMIM Id: 255995
ICD-10: G71.2
UMLs: C1850625
MeSH: C538343
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0002058) Myopathic facies 26 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0000506) Telecanthus 156 / 7739
6
 (HPO:0002714) Downturned corners of mouth 98 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000581) Blepharophimosis 197 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
10
 (HPO:0000508) Ptosis 459 / 7739
11
 (HPO:0000369) Low-set ears 372 / 7739
12
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
13
 (HPO:0001265) Hyporeflexia 208 / 7739
14
 (HPO:0001371) Flexion contracture 220 / 7739
15
 (HPO:0002751) Kyphoscoliosis 131 / 7739
16
 (HPO:0001883) Talipes 12 / 7739
17
 (HPO:0005775) Multiple skeletal anomalies 2 / 7739
18
 (HPO:0011968) Feeding difficulties 240 / 7739
19
 (HPO:0004322) Short stature 1232 / 7739
20
 (HPO:0002047) Malignant hyperthermia 20 / 7739
21
 (HPO:0002111) Restrictive deficit on pulmonary function testing 25 / 7739
22
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Serum creatine kinase may be increased 6 / 7739
26
 (OMIM) Increased prevalence among the Native American Lumbee Indians 1 / 7739
27
 (OMIM) Talipes deformities 2 / 7739
28
 (OMIM) Oral hypotonia 1 / 7739
29
 (OMIM) Muscle weakness, congenital 1 / 7739
30
 (HPO:0002119) Ventriculomegaly rare [HPO:skoehler] 253 / 7739
31
 (HPO:0012745) Short palpebral fissure 47 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Native American myopathy (NAM) is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. It was first reported in ...
Clinical Description OMIM Bailey and Bloch (1987) first described Native American myopathy in a 3-month-old American Indian infant of Lumbee descent with multiple congenital anomalies including cleft palate, micrognathia, talipes equinus, and arthrogryposis. The Lumbee population are a mixture of Cheraw ...
Molecular genetics OMIM Horstick et al. (2013) sequenced the coding regions of the STAC3 gene in a cohort of 5 families with Native American myopathy that included 5 affected and 13 unaffected individuals. All affected individuals were homozygous for a missense ...