Spinal Muscular Atrophy: Diagnostic Tests

Obligatory medical device diagnostics. Electromyography (EMG; measurement of electrical muscle activity). Electrophysiological examination – due todifferential diagnosis of other neurogenetic diseases. Measurement of nerve conduction velocity (NLG) – to determine the total activity of muscle fibers. Optional medical device diagnostics – depending on the results of the history, physical examination and obligatory laboratory parameters – … Spinal Muscular Atrophy: Diagnostic Tests

Eosinophilic Granulomatosis with Polyangiitis: Symptoms, Complaints, Signs

The following symptoms and complaints may indicate eosinophilic granulomatosis with polyangiitis (EGPA), formerly Churg-Strauss syndrome (CSS): Allergic symptomatology such as allergic asthma (in 70% of cases), allergic rhinitis (hay fever). Involvement internal organs, especially heart (in about 30% of cases; ANCA usually negative and high eosinophil counts, eosinophilic granulomatous myocarditis (inflammation of the heart muscle), … Eosinophilic Granulomatosis with Polyangiitis: Symptoms, Complaints, Signs

Eosinophilic Granulomatosis with Polyangiitis: Causes

Pathogenesis (disease development) The etiology (causes) of eosinophilic granulomatosis with polyangiitis (EGPA), formerly Churg-Strauss syndrome (CSS), is unknown. Genetic factors, the complement system, B- and T-cell response, involvement of cytokines, and endothelial changes are thought to be important with regard to pathogenesis. Infectious triggers are also discussed as triggers. Neutrophils, B cells, and ANCA (antineutrophil … Eosinophilic Granulomatosis with Polyangiitis: Causes

Spinal Muscular Atrophy: Symptoms, Complaints, Signs

The following symptoms and complaints may indicate spinal muscular dystrophy (SMA): In the spontaneous course, i.e., without therapy, SMA is characterized by proximal and leg-emphasized, usually symmetrical muscle weakness and atrophy. The following is a presentation of the symptomatology of 5q-associated spinal muscular atrophy: SMA type Synonyms Start Motor skills Clinical findings 0 neonatal form … Spinal Muscular Atrophy: Symptoms, Complaints, Signs

Heel Spur

Calcaneal spur (calcaneal spur, calcaneal spur, fasciitis plantaris/fasciitis plantaris; ICD-10-GM M77.3: calcaneal spur) refers to a thorn-like exostosis (bony outgrowth, toe-oriented) of the calcaneus. Although the calcaneal spur gives its name, it is not causative of the accompanying heel pain. Heel pain is usually caused by an underlying inflammatory disease of the plantar tendon or … Heel Spur

Spinal Muscular Atrophy: Causes

Pathogenesis (disease development) Spinal muscular dystrophy is an autosomal recessive inherited disorder that affects the “survival motor neuron” (SMN1) gene on chromosome 5. The SMN (Survival of Motor Neuron) protein expressed by the gene is essential for the function of alpha-motoneurons (the basis of active contractions of skeletal muscle). More than 90% are caused by … Spinal Muscular Atrophy: Causes

Heel Spur: Medical History

Medical history (history of illness) represents an important component in the diagnosis of heel spur. Family history Social history What is your occupation? Do you have to do a lot of standing or running activities in your job? Current medical history/systemic history (somatic and psychological complaints). Are you experiencing pain? If yes, when does the … Heel Spur: Medical History

Heel Spur: Or something else? Differential Diagnosis

Musculoskeletal system and connective tissue (M00-M99). Bursitis (bursitis). Chronic polyarthritis Coalitio talonavicularis – malformation of the navicular and calcaneal bones. Gout (arthritis urica/uric acid-related joint inflammation or tophic gout)/hyperuricemia (elevation of uric acid levels in the blood). Calcaneal cyst (cyst in the heel bone area). Bekhterev’s disease – chronic inflammatory disease of the spine, which … Heel Spur: Or something else? Differential Diagnosis

Heel Spur: Secondary Diseases

The following are the most important diseases or complications that may be co-morbid due to heel spurs: Symptoms and abnormal clinical and laboratory findings not classified elsewhere (R00-R99). Chronic pain

Spinal Muscular Atrophy: Or something else? Differential Diagnosis

Endocrine, nutritional, and metabolic diseases (E00-E90). Disorders of carbohydrate metabolism Musculoskeletal system and connective tissue (M00-M99). Polymyositis – autoimmune disease; inflammatory systemic disease of skeletal muscle. Psyche – nervous system (F00-F99; G00-G99). Amyotrophic lateral sclerosis (ALS) – progressive, irreversible degeneration of the motor nervous system. Emery-Dreifuss muscular dystrophy (synonym: Hauptmann-Thannhauser syndrome) – autosomal dominant or … Spinal Muscular Atrophy: Or something else? Differential Diagnosis

Spinal Muscular Atrophy: Complications

The following are the most important diseases or complications that may be contributed to by spinal muscular atrophy: Respiratory system (J00-J99) Aspiration pneumonia – pneumonia caused by inhalation of foreign substances (in this case, stomach contents). Pneumonia (pneumonia) Respiratory insufficiency – isolated arterial hypoxemia (oxygen deficiency) with reduction of partial pressure of oxygen below a … Spinal Muscular Atrophy: Complications