A Brief Disorder Description
2 to 16 years. Symptoms almost identical to Duchenne yet less severe. Affects pelvis, upper arms and upper legs. Becker progresses more slowly than Duchenne and survival runs well into middle age.
at birth. Generalised muscle weakness, with possible joint deformities from shortening of muscles. Disease progresses very slowly and life span may be shortened.
2 to 6 years. General muscle weakness and wasting, affecting pelvis, upper arms and upper legs first. Duchenne progresses slowly, yet eventually involves all voluntary muscles. Survival is rare beyond the 20's.
40 to 60 years. Weakness and wasting of muscles of the hands, forearms and lower legs. Progresses slowly and rarely leads to total incapacity.
childhood to early teens. Weakness and wasting of shoulder, upper arm and shin muscles. Joint deformities are common. Disease progresses slowly, yet sudden death can result from cardiac complications.
teens to early adulthood. Facial muscle weakness, with weakness and some wasting of the shoulders and upper arms. Progressing slowly with some periods of rapid deterioration, disease may span many decades.
late childhood to middle age. Weakness and wasting, affecting shoulder girdle and pelvic girdle first. Disease progresses slowly, with death most commonly occuring as a consequence of cardiopulmonary complications.
20 to 40 years. Weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction. Affects face, feet hands and neck first. Progression is slow, sometimes spanning 50 to 60 years.
40 to 70 years. First effects muscles of eyelids and throat. While progression is slow, weakening of throat muscles in time causes inability to swallow and emaciation from lack of food.
Spinal Muscular Atrophies:
MOTOR NEURONE DISEASE - AMYOTROPHIC LATERAL SCLEROSIS (ALS) -
35 to 65 years. Wasting and weakness of all body muscles, with cramps and muscle twitches common. Progressive, ALS first affects legs, arms and/or throat muscles. Survival rarely exceeds five years after onset.
INFANTILE PROGRESSIVE SPINAL MUSCULAR ATROPHY -
birth to three months. Generalised muscle weakness, weak cry, trouble swallowing and sucking, and breathing distress, usually leading to paralysis of legs and arms within three months. Life span rarely exceeds are 2.
INTERMEDIATE SPINAL MUSCULAR ATROPHY -
six months to 3 years. Weakness in arms, legs and lower torso, often with skeletal deformities. Disease progresses rapidly. While most patients survive to early childhood, respiratory problems can further shorten life.
JUVENILE SPINAL MUSCULAR ATROPHY -
1 to 15 years. Weakness in leg, hip, shoulder, arm and respiratory muscles. Calf muscles are often enlarged. Disease progresses slowly. Wheelchair is often required by age 30. Life span is unaffected.
ADULT SPINAL MUSCULAR ATROPHY -
18 to 50 years. Weakness in the tongue, hands or feet which slowly spreads to other parts of the body. A relatively mild form of spinal muscular atrophy, it has little impact on life expectancy.
childhood to 60 years. Fever, malaise or mild gastrointestinal distress followed somewhat later by blotchy rash on the cheeks. Swelling of the upper eyelid is also common. Disease progression and severity vary by individual.
childhood to 60 years. Weakness of neck muscles and generalised muscle swelling. Disease severity and progression vary by individual.
Diseases of Peripheral Nerve:
CHARCOT-MARIE-TOOTH DISEASE -
teens to 20 years. Weakness and atrophy of muscles of hands and lower legs with foot deformities and some loss of sensation. Disease progression varies.
DEJERINE-SOTTAS DISEASE -
Infancy. Slow development of early motor skills, leading often to loss of skill. Muscle weakness affects hands, legs and may involve impairment of sensation. Severity and progression of disease vary.
FRIEDREICH'S ATAXIA -
7 to 13 years. Impairment of limb coordination, muscle weakness and loss of sensation. Severity and progression of disorder vary. Often associated with diabetes and heart disease.
Diseases of the Nueromuscular Junction:
MYASTHENIA GRAVIS -
30 to 50 years, but initial onset difficult to date. Weakness and fatigability of muscles of the eyes, face, neck, throat, limbs and/or trunk. Disease progression varies. Drug therapy and/or removal of thymus gland often effective.
LAMBERT-EATON SYNDROME -
over 40 years.
Weakness and fatigue of hip muscles with aching back and thigh muscles
common. Lung tumor is often present. Progression varies with success
of drug therapy and treatment of any malignancy.
Metabolic Diseases of the Muscle:
ACID MALTASE DEFICIENCY -
Infancy to adulthood. For infants, disease is generalised and severe with heart, liver and tongue enlargement common. Adult form involves weakness of mid-body and respiratory muscles. Progression varies.
CARNITINE DEFICIENCY -
Varied weakness of shoulder, hip, face and neck muscles. Often a
secondary metabolic condition, progression varies and carnitine
supplementation can be effective.
CARNITINE PALMITYL TRANSFERASE DEFICIENCY -
young adulthood. Inability to sustain moderate prolonged exercise. Prolonged exercise and/or fasting can cause severe muscle damage with urine discoloration and kidney damage.
DEBRANCHER ENZYME DEFICIENCY -
1 year. General muscle weakness, poor muscle control and an enlarged liver with low blood sugar. Slow progression. Some patients do not experience muscular weakness until late teens or early adulthood.
ACTATE DEHYDROGENASE DEFICIENCY -
childhood to adolescence. Intolerance of intense exercise with muscle damage and urine discoloration possible following strenuous physical activity. Severity of disorder varies and intense exercise should be avoided.
MITOCHONDRIAL MYOPATHY -
birth to adulthood. Severe muscle weakness, flaccid neck muscles and inability to walk. Brain is often involved, with seizures, deafness, loss of balance and vision, and retardation common. Progression and severity vary.
MYOADENYLATE DEAMINASE DEFICIENCY -
early adulthood to middle age. Muscle fatigue and weakness during and after exertion, with muscle soreness or cramping. Patients are often unable to attain previous performance levels yet condition is nondebilitating and nonprogressive.
PHOSPHORYLASE DEFICIENCY -
Adolescence. Low tolerance for exercise, with cramps often occuring after exercise. Intense exercise can cause muscle destruction and possible damage to kidneys. Reducing strenuous exercise can lessen severity.
PHOSPHOFRUCTOKINASE DEFICIENCY -
Childhood. Muscle fatigue which upon exercise can lead to severe cramps, nausea, vomiting, muscle damage and discoloration of urine. Disease varies widely in severity and progression.
PHOSPHOGLYCERATE KINASE DEFICIENCY -
Childhood to adulthood. Muscular pain, cramps, muscle damage and urine discoloration possible following intense exercise of brief duration. Severity varies and intense exercise should be avoided.
Less Common Myopathies:
CENTRAL CORE DISEASE -
at birth or early infancy. Motor skill milestones are reached very slowly and hip displacement is not uncommon. Condition is disabling but not life-threatening.
HYPERTHYROID MYOPATHY -
childhood to adulthood. Weakness in upper arm and upper leg muscles with some evidence of wasting. Severity depends on success in treating underlying thyroid condition.
MYOTONIA CONGENITA -
infancy to childhood. Muscle stiffness and difficulty in moving after periods of rest. With exercise, muscle strength and movement return to normal. Condition causes discomfort throughout life but is not life-threatening.
MYOTUBULAR MYOPATHY -
at birth to infancy. Drooping of upper eyelids, facial weakness, foot drop and some weakness of the limbs and trunk are common symptoms. Patients almost always have no reflexes. Diseases progresses slowly.
NEMALINE MYOPATHY -
at birth or early infancy. Hypotonia and weakness of arm, leg, trunk, face and throat muscles. In severe cases, children have marked respiratory weakness. Children rarely survive more than a few years, yet some live into teens.
PARAMYOTONIA CONGENITA -
adulthood. Poor or difficult relaxation of muscle which usually worsens after repeated use or exercise. Condition causes discomfort throughout life but is not life-threatening.
PERIODIC PARALYSIS - HYPOKALEMIC - HYPERKALEMIC -
infancy to 30 years. Severe generalised weakness of legs and other muscle groups with periods of paralysis affecting arms, legs and neck. Severity varies by age of onset and success of drug therapy.
History | Logo | MD Centre | Mission | Partmerships | Policies | Employment | Calendar | Clinical | Glossary | Links | Duchenne | ED | FSH | LGD | Myotonic | Mitochondrial | SMA | Newsletters | Genetics | InfoMD | PEG | 101 | Physio | Recreation | Resources | Respiratory | Scoliosis | Media | Ryan's Cafe | CampMDA | ChallengeMD | Forum | NMDRC | Wheelie's Rest | Programs | Futures | Respite | CINRG | Glossary | Clinics | Bequests | Donations | Fundraising | InMemory | MDAngels | Volunteers | Workplace Giving