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muscular dystrophy and downs syndrome in cbr

The document discusses muscular dystrophy, a group of inherited neuromuscular diseases characterized by progressive muscle weakness due to gene mutations. It highlights the disease's criteria, stages of progression, and management strategies including rehabilitation and support for affected children. Additionally, it covers Down's syndrome, its clinical features, incidence, and management approaches, emphasizing the importance of early intervention and genetic counseling.

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Muscular dystrophy
Muscular dystrophy is a collective term referring to a group of inherited neuromuscular diseases characterized by progressive muscle weakness due to various mutations in several genes involved in muscle structure and function.
MUSCULAR DYSTROPHY is distinguished from other diseases by 4 criteria: Primary dystrophy Genetic basis for disorder Course is progressive Degeneration and death of muscle fibres occur at some stage of the disease.
Muscles affected are symmetrical Sensory- not affected Tendon reflexes are preserved till last stage
Complications Respiratory Scoliosis Contracture s
Some children become wheelchair dependent bound by 9-10 years. The progression: Upto 7 years- ambulatory stage Upto 12 years- wheel chair Upto 19-20 years- bed bound
Rehabilitation Ambulatory stage: Early detection & management of contractures Positions encouraging contractures should be avoided. Long leg sitting & prone lying are encouraged Passive stretching daily Splinting Supportive physical therapy exercises: endurance exercise, respiratory training, occupational therapy Monitoring and prevention of cardiac complications Psychological support
Wheelchair dependent stage: Respiratory management Upper limb weakness : UL Orthosis Adl independence training Prevention of scoliosis
Stage of prolonged survival Ventilation assistance Facilitation of ADL independence Communication aids as possible
DOWN’S SYNDROME
Downs syndrome is one of the common cause of mental sub normality in children Incidence : 1.2/1000 live births. Cause : chromosomal abnormality called Trisomy 21.
Clinical features Skull- small face- flat Delayed closure of fontanelles Mental sub normality Speech – delayed Congenital malformations- present Ligaments – lax & hypermobile Muscles- hypotonic & motor milestones- delayed • Deformities: scoliosis, pes planus& subluxation of joints
Management Positioning : • Child prefers supine lying & sitting to avoid energy expenditure. • Balance reactions – should be trained. Sensory & proprioceptive re education: • Strengthening towards motor milestonnes ,muscular activities • ADL training, IQ assessment ,special education, behaviour modifications.
Genetic counselling Take history Construct pedigree Establish diagnosis Counselling to parents Risk estimation Follow up