Dystrophic gene mutation leads to :
Answer is D (Duchenne Muscular Dystrophy) : Duchenne muscular dystrophy is caused by a mutation in the gene responsible far producing dystrophin. Progressive Muscle Dystrophies Type Inherita nce Defective gene/Protein Onset age Clinical features Other Organ systems involved Duchenne XR Dystrophin Before 5 years Progressive weakness of girdle muscles Cardiomyopathy Mental impairment Unable to walk after age 12 Progressive kyphoscoliosis Respiratory failure in second or third decade Becker XR Dystrophin Early childhood to adult Progressive weakness of girdle muscles Able to walk after age 15 Cardiomyopathy Respiratory failure may develop by fouh decade Limb -girdle AD/AR Several Early childhood to early adult Slow progressive weakness of shoulder and hip girdle muscles Cardiomyopathy Emery- XR/AD Emerin/Lamins Childhood to Elbow contractures humeral Cardiomyopathy Dreifuss A/C adult and peroneal weakness Congenital AR Several At bih or within first few month Hypotonia, contractures , delayed milestones Progression to respiratory failure in some, static course in others CNS abnormalities (hypomyelination malformation) Eye abnormalities Myotonic AD DM1 : Usually second Slowly progressive weakness Cardiac conduction (DM 1, DM2) Expansion decade may be of face, shoulder girdle and defects, mental CTG repeat DM2 : infancy if mother foot dorsiflexion Preferential proximal impairments cataracts, frontal baldness, gonadal Expansion CCTG repeat affected (DM I only) weakness in DM2 atrophy Facioscapu- lohumeral AD Deletion, Distal 4q Before age 20 Slowly progressive weakness of face, shoulder girdle and foot dorsiflexion Deafness, Coat's (eye) disease Oculopharyng eal AD Expansion, poly A-RNA binding protein 5`h to 6`h decade Slowly progressive weakness of extraocular, pharyngeal and limb muscles
Myasthenia gravis
Motor neuron disease
Poliomyelitis
Duchenne muscular dystrophy