Fatal infantile hypertonic myofibrillar myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
Alpha-B crystallin-related myofibrillar myopathy
Number of Symptoms 19
OrphanetNr: 280553
OMIM Id: 613869
ICD-10: G71.2
UMLs:
MeSH:
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: Alpha-crystallinopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002063) Rigidity 92 / 7739
2
 (HPO:0001371) Flexion contracture variable [HPO:skoehler] 220 / 7739
3
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
 (HPO:0002878) Respiratory failure 57 / 7739
5
 (HPO:0001612) Weak cry 17 / 7739
6
 (HPO:0002093) Respiratory insufficiency 410 / 7739
7
 (HPO:0002104) Apnea 106 / 7739
8
 (HPO:0003560) Muscular dystrophy 88 / 7739
9
 (OMIM) Respiratory insufficiency, progressive 1 / 7739
10
 (OMIM) Eosinophilic inclusions 1 / 7739
11
 (OMIM) Z-band streaming 1 / 7739
12
 (OMIM) Endomysial fibrosis 4 / 7739
13
 (OMIM) Decreased chest wall compliance due to muscular hypertonicity 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) EMG shows increased insertion activity and fibrillation 1 / 7739
16
 (OMIM) 'Stiffness' 5 / 7739
17
 (OMIM) Granular deposits in the sarcomeres 1 / 7739
18
 (HPO:0003678) Rapidly progressive 33 / 7739
19
 (OMIM) Muscle hypertonicity 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated ...
Clinical Description OMIM Lacson et al. (1994) reported 11 Canadian aboriginal infants of Cree ancestry with a similar form of fatal hypertonic muscular dystrophy. All presented in the first 8 weeks of life with respiratory insufficiency, except 1 who was hypertonic ...
Molecular genetics OMIM In 8 patients with fatal infantile hypertonic myofibrillar myopathy, including 3 reported by Lacson et al. (1994), Del Bigio et al. (2011) identified the same homozygous 1-bp deletion in the CRYAB gene (60delC; 123590.0005), resulting in a truncated ...