Werdnig-Hoffmann disease
Overview
Werdnig-Hoffmann disease (medical condition): A type of spinal muscular atrophy which is a progressive genetic motor neuron disease involving the nerves and muscles. The condition is relatively rare and is characterized by muscle weakness which leads to structural deformities
Symptoms
It is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Affected children never sit or stand unassisted and will require respiratory support to survive before the age of 2. Other symptoms include: Fasciculations (quivering) of the tongue Marked Hypotonia in legs, arms, rib, chest & bulbar muscles (Patient lies in a frog-leg position, i.e. hips abducted & knees flexed) Flaccid quadriplegia Difficulty breathing Poor feeding Weak cry Areflexive extremities
Causes
All the spinal muscular atrophy are inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by disruptions or errors (mutations) in the spinal muscular atrophy (survival motor neuron 1) gene on chromosome 5.
Diagnosis
Electromyogram (EMG) will show fibrillation & muscle denervation[citation needed] Serum creatine kinase may be normal or increased[citation needed]
Prognosis
Children with Werdnig-Hoffmann disease / SMA Type 1 face a difficult battle. The patient's condition tends to deteriorate over time, depending on the severity of the symptoms. The child is constantly at risk of respiratory infection and pneumonia. Poor chewing and swallowing may lead to malnutrition; supplemental tube feedings may be required through the nose or directly into the stomach. Recurrent respiratory problems (the primary cause of morbidity in this condition)[5] mean that mechanical support for breathing—usually initially in the form of BiPAP and later often tracheostomy and ventilation—are necessary for the baby to have any chance of long-term survival. Affected children never sit or stand and usually die before the age of 2 without breathing support.