Symptoms - Scapuloperoneal syndrome- neurogenic- Kaeser type * Foot drop * Clubfoot * Wasting of lower leg muscles * Wasting of shoulder muscles * Leg weakness * Shoulder weakness * Facial weakness * Paraplegia * Weak eye muscles Causes - Scapuloperoneal [checkorphan.org]

Related phenotypes are talipes equinovarus and scapuloperoneal weakness [malacards.org]

Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Foot dorsiflexor weakness Foot drop 0009027 Peroneal muscle atrophy 0009049 Scapuloperoneal weakness 0003704 Shoulder girdle muscle [rarediseases.info.nih.gov]

Valuable insights into the muscular dystrophies, including treatment, diagnosis, and care and patient management A comprehensive compilation of the combined wisdom of the most highly regarded physicians, experts, and scientists studying the muscular dystrophies [books.google.de]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Truong, MD, Head, The Parkinson’s and Movement Disorders Institute, Orange Coast Memorial Medical Center, Fountain Valley, California, USA William Carroll, MD, Head, Department of Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, [books.google.de]

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am. J. Hum. Genet. 93, 181–190 (2013). 46. Carss, K. J. et al. [nature.com]

But the specialist paediatric pathologist will also find much of interest and value. Others working in germane specialties - such as obstetricians, neonatologists and paediatric surgeons - will also obtain much valuable information. [books.google.de]

Disease 486 Urolithiasis 496 Bones and Joints 521 Skeletal Abnormalities Developed Later in Childhood or Adolescence 531 Other Diseases of the Thymus 641 Malignant Lymphomas 647 Normal Bone Marrow 662 Pancytopenia 668 Thrombocytosis 676 Adrenal Medulla [books.google.de]

Lesions 144 Inherited Metabolic Disease 157 Infections 170 Trauma 183 Gastrointestinal System 207 Stomach 220 Malformations of the Anus and Rectum 258 Liver and Gallbladder 275 Metabolic Defects Causing Unconjugated Hyperbilirubinaemia 281 Obstructive Jaundice [books.google.de]

Autopsy shows muscular atrophy and involvement of the claudal cranial nuclei. Etiology unknown. Inheritance is either autosomal dominant or X-linked. It is clinically indistinguishable from Kugelberg-Welander (recessive). [whonamedit.com]

The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. [books.google.de]

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am J Med Genet. 1989 Jul. 33(3):328-35. [Medline]. [emedicine.medscape.com]

Juvenile spinal muscular atrophy, or Kugelberg-Welander disease, in contrast to infantile spinal muscular atrophy, may have either a juvenile or late onset. [healio.com]

Emery Published 1971 in Journal of medical genetics In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. [semanticscholar.org]

Symptoms - Scapuloperoneal syndrome- neurogenic- Kaeser type * Foot drop * Clubfoot * Wasting of lower leg muscles * Wasting of shoulder muscles * Leg weakness * Shoulder weakness * Facial weakness * Paraplegia * Weak eye muscles Causes - Scapuloperoneal [checkorphan.org]

At onset, bilateral foot drop and talipes equinovarus; then in a second phase, the shoulder girdle and finally bulbar involvement may occur. Associated disorders may include heart defect and short heel cord. [whonamedit.com]

Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Foot dorsiflexor weakness Foot drop 0009027 Peroneal muscle atrophy 0009049 Scapuloperoneal weakness 0003704 Shoulder girdle muscle [rarediseases.info.nih.gov]

[…] the Glomeruli 470 Renal Vascular Disease 486 Urolithiasis 496 Bones and Joints 521 Skeletal Abnormalities Developed Later in Childhood or Adolescence 531 Other Diseases of the Thymus 641 Malignant Lymphomas 647 Normal Bone Marrow 662 Pancytopenia 668 Thrombocytosis [books.google.de]