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

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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