insufficiency ; Scapuloperoneal amyotrophy ; Scapuloperoneal weakness ; Scoliosis ; Slow progression ; Type 1 muscle fiber predominance Associated Genes MYH7 (Withdrawn symbols: CMD1S, CMH1, MPD1 ) Mouse Orthologs Myh7 (Withdrawn symbols: Myhc-b, Myhcb [mousephenotype.org]

Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. [genome.jp]

insufficiency Respiratory impairment 0002093 Scapular winging Winged shoulder blade 0003691 Scapuloperoneal amyotrophy 0003697 Scapuloperoneal weakness 0003704 Slow progression Signs and symptoms worsen slowly with time 0003677 Type 1 muscle fiber predominance [rarediseases.info.nih.gov]

Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency ( 6 ). [pnas.org]

Other symptoms associated with myopathies may include muscle cramps, stiffness, and/or spasms, joint contractures, and respiratory insufficiency. [invitae.com]

They also did not present with high arched palate, tremors, sensory disturbances, contractures of joints, respiratory failures or obvious cardiac failures. Their intelligence was normal. [nature.com]

Our index case complained of proximal muscle weakness at age 30. Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. [ncbi.nlm.nih.gov]

It is characterised by the presence of subsarcolemmal hyaline bodies in type I muscle fibres and predominantly proximal muscle weakness. [plu.mx]

Circular dichroism (CD) was measured using a Jasco J-810 spectropolarimeter (Jasco) with constant N 2 flushing. A Peltier temperature control device was used to perform all measurements at 4 C and a rectangular 1-mm path length cell was used. [pnas.org]

[…] symbols: CMD1S, CMH1, MPD1 ) Mouse Orthologs Myh7 (Withdrawn symbols: Myhc-b, Myhcb ) Source OMIM:255160 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse [mousephenotype.org]

facies ; Respiratory insufficiency ; Scapuloperoneal amyotrophy ; Scapuloperoneal weakness ; Scoliosis ; Slow progression ; Type 1 muscle fiber predominance Associated Genes MYH7 (Withdrawn symbols: CMD1S, CMH1, MPD1 ) Mouse Orthologs Myh7 (Withdrawn [mousephenotype.org]

As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. 0000218 Myopathic facies 0002058 Scoliosis Abnormal curving [rarediseases.info.nih.gov]

gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 24 Last updated: 12/1/2018 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. [ghr.nlm.nih.gov]

phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 EMG: myopathic abnormalities 0003458 Generalized limb muscle atrophy Generalized muscle wasting 0009055 Generalized muscle weakness [rarediseases.info.nih.gov]