Presentation
Entire Body System
- Weakness
Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. [rarediseases.info.nih.gov]
[…] disorder) / 763718009 myopathie distale tardive type Markesbery-Griggs ZASP related myofibrillar myopathy SNOMEDCT-BE (disorder) / 770558006 SNOMEDCT-BE (disorder) / 770558006 myopathie distale type Welander A distal myopathy with characteristics of weakness [wordscope.com]
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion. Neuromuscul Disord. 2016;26:236–9. [ncbi.nlm.nih.gov]
Musculoskeletal
- Myopathy
(disorder) / 764859001 myopathie distale avec atteinte initiale des membres supérieurs type finlandais Distal myopathy type 3 SNOMEDCT-BE (disorder) / 763718009 SNOMEDCT-BE (disorder) / 763718009 myopathie distale tardive type Markesbery-Griggs ZASP [wordscope.com]
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007;17:321–9. [ncbi.nlm.nih.gov]
Title Other Names: Laing early-onset distal myopathy; Myopathy distal, type 1 Categories: This disease is grouped under: Myosinopathies Summary Summary Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. [rarediseases.info.nih.gov]
With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset AD,AR 97.63 733 of 746 SCN4A Congenital [igenomix.es]
- Brachydactyly
Bardet-Biedl syndrome 11615988 TRPV4199.20.990.98Brachyolmia type 3113500 TRPV4199.20.990.98Digital arthropathy-brachydactyly, familial,606835 TRPV4199.20.990.98Hereditary motor and sensory neuropathy, type IIc,606071 TRPV4199.20.990.98Metatropic dysplasia [qgenomics.com]
TRIP4 Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory- Skin Abnormalities- Joint Hyperlaxity Syndrome AR 99.92 3 of 3 TRPV4 Brachyrachia, Familial Digital Arthropathy- Brachydactyly [igenomix.es]
- Myalgia
Weakness of outermost muscles 0002460 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 High palate Elevated palate Increased palatal height [ more ] 0000218 Mildly elevated creatine kinase 0008180 Minicore myopathy 0003789 Myalgia [rarediseases.info.nih.gov]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]
Etiology
Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]
Prevention
[2] Most affected people remain mobile throughout life.[1][2] Life expectancy is normal.[1] Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion.[1][2] Treatment may include physiotherapy to prevent [rarediseases.info.nih.gov]