Atrophy - Spinal muscular atrophy

Spinal muscular atrophy - Chronic

Definition  

An autosomal recessive disorder associated with progressive proximal muscle weakness and paralysis due to the degeneration of primary alpha motor neurons in the anterior horn of the spinal cord

 

 

Spinal muscular atrophy  

* Gene mutation analysis: Gene mutation analysis detection of deletions or mutations of the SMN1 allele confirms a diagnosis or carrier status of spinal muscular atrophy .

 

Medical History  

* Anomaly of chromosome pair 5

* Family history of Spinal muscular atrophy

 

Findings  

* Poor muscle tone

* Muscle weakness

* Respiratory failure

* Contracture of hip joint

* Abnormal deep tendon reflex

* Fasciculation of tongue

* Tremor

* Chest deformity

* Difficulty coughing

* Hypoventilation

* Diaphragmatic breathing

* Fatigue

* Scoliosis deformity of spine

* Abdominal distension

* Constipation - Chronic

* Failure to thrive - Chronic

* Gowers sign

* Reduced fetal movement

 

Tests  

 

Spinal muscular atrophy  

* Gene mutation analysis: Gene mutation analysis detection of deletions or mutations of the SMN1 allele confirms a diagnosis or carrier status of spinal muscular atrophy .

 

Suspected spinal muscular atrophy  

* Serum creatine kinase measurement: Although serum creatine kinase levels are usually normal , they may be elevated in some patients with spinal muscular atrophy .

 

Suspected spinal muscular atrophy  

* Electromyography: In spinal muscular atrophy patients, electromyography shows a pattern of denervation with normal motor and sensory nerve conduction velocities .

 

Suspected spinal muscular atrophy  

* Biopsy of muscle: Muscle biopsy in spinal muscular atrophy may show atrophic changes in denervated skeletal muscle, with hypertrophic changes in chronic cases of the disorder .

 

Differential Diagnosis  

* Werdnig-Hoffmann disease

* Spinal muscular atrophy, type II

* Kugelberg-Welander disease

* Adult spinal muscular atrophy

* Scapuloperoneal spinal muscular atrophy

* Distal spinal muscular atrophy

* Bulbospinal neuronopathy

* Tay-Sachs disease

* Progressive bulbar palsy of childhood

 

Treatment  

 

Procedural Therapy  

 

Failure to thrive  

* Nutrition management: Children with failure to thrive require high caloric intake to achieve adequate catch up growth .

 

 

Post poliomyelitis syndrome – Chronic

 

Definition  

A condition of progressive muscular atrophy, weakness, pain, and fatigue, associated with functional decline occurring in patients with polio-related residual impairments following a period of prolonged stability

 

Medical History  

* Past medical history of Poliomyelitis, acute

 

Findings  

* Fatigue

* Pain

* Muscle weakness

* Muscle fasciculation

* Skeletal muscle tender

* Pseudohypertrophy of muscle

* Respiratory insufficiency

* Dysphagia - Chronic

* Intolerant of cold

 

Tests  

 

Suspected postpolio syndrome  

* Electromyography

 

Differential Diagnosis  

* Motor neuron disease

* Spinal cord disease

* Radiculopathy

* Peripheral neuropathy - Chronic

* Physical deconditioning

* Parkinson's disease - Chronic

* Anemia - Chronic

* Hypothyroidism - Chronic

* Exhaustion due to excessive exertion

* Sleep disorder - Chronic

* Medication side effects present

* Disease, chronic

* Depression - Chronic

* Disorder of musculoskeletal system

* Swallowing problem

* Peripheral vascular disease - Chronic

 

Treatment  

 

Procedural Therapy  

 

Treatment of weakness in postpolio syndrome  

* Physical therapy procedure

 

Non-Procedural Therapy  

 

Postpolio syndrome  

* Smoking Cessation

* Nutrition