Disease Information for Juvenile spinal muscle atrophy (Kugelberg-Welander): Clinical Manifestations

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Signs & Symptoms
Adolescent
Hyperextensable Joints Infant
Tongue Protrudes Infant
Arm/shoulder weakness (symptom)
Central hypotonia, infants
Delay Sitting Unsupported Infant
Distal leg weakness
Distal Muscle Weakness
Distal upper extremity weakness
Loss of muscle mass
Mouth Hangs Open Infant
Muscle Atrophy
Muscle atrophy upper extremities/Bilateral
Muscle fasciculations
Muscle tone/decreased
Muscle twitches
Muscle weakness
Muscles Soft/Doughy Infant
Proximal lower extremity weakness
Proximal muscle weakness
Proximal symmetrical muscle weakness
Thigh muscle atrophy
Twitchy/muscle spasms
Abdominal reflex decreased
Absent deep tendon reflexes
Ankle reflexes absent
Awkward Uncoordinated Child
Babkin infant sign/Abnormal
Coordination/signs
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Intelligence normal
Leg reflexes, bilateral decrease
Limb Ataxia
Limb ataxia/clumsiness child
Limb weakness/signs
Lower motor neuron lesion/signs
Moro reflex Poor/Absent Infant
Muscle atrophy lower extremities/Bilateral
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Distal Hyperlaxity
Difficulty climbing stairs
Falling
Muscle Wasting/Diffuse
Walking difficulties
Weakness
Clinical Presentation & Variations
Presentation/Muscle atrophy legs more than arms Child
Early Childhood/Infancy Muscular Dystrophy
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset 3 to 12 years old
Onset ages 2 to 3 yrs
Onset/Before puberty
Onset/gradual
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