Duchenne Muscular Dystrophy

Duchenne Type Muscular Dystrophy: Drug Therapy

Therapy goals Alleviation of symptomatology and discomfort Slowing of the progression (progression) Therapy recommendations Symptomatic therapy: glucocorticoids, deflazacort. Ataluren: only helpful if nonsense mutation is present in the DMD gene; the drug ensures that instead of a stop codon (causes abortion of translation (translation of mRNA into protein) and thus shortened protein), the amino acid … Duchenne Type Muscular Dystrophy: Drug Therapy

Duchenne Type Muscular Dystrophy: Diagnostic Tests

Obligatory medical device diagnostics. Spirometry (basic examination as part of pulmonary function diagnostics) – annually from six years of age. Optional medical device diagnostics – depending on the results of the medical history, physical examination and obligatory laboratory parameters – for differential diagnostic clarification. X-ray of the thorax (X-ray thorax/chest), in two planes – especially … Duchenne Type Muscular Dystrophy: Diagnostic Tests

Duchenne Type Muscular Dystrophy: Symptoms, Complaints, Signs

The following symptoms and complaints may indicate Duchenne muscular dystrophy type (mod. by): Symptoms Age Description Nonspecific early symptoms 0-3 months When pulling up from the supine position, the head is not actively carried. Up to 3 months Reduced, slow, and uncoordinated arm and leg movement No head posture control Until 6 months Limp and … Duchenne Type Muscular Dystrophy: Symptoms, Complaints, Signs

Duchenne Type Muscular Dystrophy: Causes

Pathogenesis (disease development) Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease affecting the DMD gene. More than 80% of the cases are caused by Raster mutations (= deletions (loss of nucleobases), insertions (additional insertion of nucleobases) or duplications (duplication of nucleobases)), which lead to a protein with a significantly altered structure, making it … Duchenne Type Muscular Dystrophy: Causes

Duchenne Type Muscular Dystrophy: Therapy

Genetic counseling should be offered: Thus, information can be obtained about the carrier status of the mother and her potential sisters. The purpose of this measure is to raise awareness among parents, especially prenatally, that other children (sons) may be affected by Duchenne muscular dystrophy. General measures Nicotine restriction (abstaining from tobacco use) [due toharmfulness … Duchenne Type Muscular Dystrophy: Therapy

Duchenne Type Muscular Dystrophy: Medical History

Medical history (history of illness) is an important component in the diagnosis of Duchenne muscular dystrophy type. Family history Are there any hereditary diseases in your family? Are there any neurological diseases in your family? Current medical history/systemic history (somatic and psychological complaints). Life stage questions: up to 18 months of age. Please describe motor … Duchenne Type Muscular Dystrophy: Medical History

Duchenne Type Muscular Dystrophy: Or something else? Differential Diagnosis

Endocrine, nutritional, and metabolic diseases (E00-E90). Disorders of carbohydrate metabolism Musculoskeletal system and connective tissue (M00-M99). Polymyositis – inflammatory systemic disease of skeletal muscle (poly: many; myositis: muscle inflammation; thus, inflammation of many muscles) with lymphocytic infiltration (infiltration of T lymphocytes). Psyche – nervous system (F00-F99; G00-G99). Emery-Dreifuss muscular dystrophy (synonym: Hauptmann-Thannhauser syndrome) – autosomal … Duchenne Type Muscular Dystrophy: Or something else? Differential Diagnosis

Duchenne Type Muscular Dystrophy: Consequential Diseases

The following are the most important diseases or complications that may be contributed to by Duchenne muscular dystrophy type: Respiratory system (J00-J99) Aspiration pneumonia – pneumonia caused by inhalation of foreign substances (often stomach contents). Pneumonia (pneumonia) Respiratory insufficiency (respiratory failure; disturbance of external (mechanical) respiration). Endocrine, nutritional, and metabolic diseases (E00-E90). Obesity (obesity). Hyperthyroidism … Duchenne Type Muscular Dystrophy: Consequential Diseases

Duchenne Type Muscular Dystrophy: Examination

A comprehensive clinical examination is the basis for selecting further diagnostic steps: General physical examination – including blood pressure, pulse, body temperature, body weight, body height; furthermore: Inspection (viewing). Skin (normal: intact; abrasions/wounds, redness, hematomas (bruises), scars) and mucous membranes. Gait (fluid, limp) [toe-tapping/waddling gait; no free walking until 18 months; knee hyperextension when walking]. … Duchenne Type Muscular Dystrophy: Examination

Duchenne Type Muscular Dystrophy: Test and Diagnosis

1st order laboratory parameters – obligatory laboratory tests. Molecular genetic testing – analysis for mutations in the DMD gene in chromosome X. Serum analyses Mircro RNAs (form of non-coding RNAs, thus not coding for proteins: miR-1, miR-133, and miR-20) [↑] Transaminases [↑] Creatine kinase (CK) [Duchenne muscular dystrophy: elevated 10-100-fold] Laboratory parameters 2nd order – … Duchenne Type Muscular Dystrophy: Test and Diagnosis