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  Home> Diseases

Diseases in the MDA Program

(Alternate names and commonly used abbreviations are given in parentheses)
Muscular Dystrophies:
Duchenne Muscular Dystrophy (DMD) (Also known as Pseudohypertrophic)    [read more]
Onset: Early childhood - about 2 to 6 years.
Symptoms: Generalized weakness and muscle wasting first affecting the muscles of the hips, pelvic area, thighs and shoulders. Calves often are enlarged.
Progression: DMD eventually affects all voluntary muscles, and the heart and breathing muscles. Survival is uncommon beyond the early 30s. A less severe variant is Becker muscular dystrophy.
Inheritance: X-linked recessive. DMD primarily affects boys, who inherit the disease through their mothers. Women can be carriers of DMD but usually exhibit no symptoms.
 
Becker Muscular Dystrophy (BMD)    [read more]
Onset: Adolescence or adulthood.
Symptoms: Generalized weakness and muscle wasting first affecting the muscles of the hips, pelvic area, thighs and shoulders. Calves often are enlarged. BMD is similar to Duchenne muscular dystrophy but often much less severe. There can be significant heart involvement.
Progression: Disease progresses slowly and with variability but can affect all voluntary muscles. Most with BMD survive well into mid-to-late adulthood.
Inheritance: X-linked recessive. BMD primarily affects boys, who inherit the disease through their mothers. Women can be carriers of BMD but usually exhibit no symptoms.
 
Emery-Dreifuss Muscular Dystrophy (EDMD)    [read more]
Onset: Usually by 10 years of age.
Symptoms: Weakness and wasting of shoulder, upper arm and calf muscles; joint stiffening; fainting (because of cardiac abnormalities).
Progression: Disease usually progresses slowly. Cardiac complications are common and sometimes require a pacemaker.
Inheritance: Can be X-linked recessive, primarily affecting males, who inherit the disease through their mothers. Another type is autosomal dominant, meaning it can be inherited through either parent; an autosomal-recessive type occurs when a faulty gene is inherited from each parent.
 
Limb-Girdle Muscular Dystrophy (LGMD)    [read more]
Onset: Childhood to adulthood.
Symptoms: Weakness and wasting first affecting the muscles around the shoulders and hips (limb girdles).
Progression: Usually progresses slowly with cardiopulmonary complications often occurring in later stages of the disease.
Inheritance: Some types are autosomal dominant, meaning LGMD is inherited from one parent. Other types are autosomal recessive and occur when a faulty gene is inherited from each parent.
 
Facioscapulohumeral Muscular Dystrophy (FSH or FSHD) (Also known as Landouzy-Dejerine)    [read more]
Onset: Usually by age 20.
Symptoms: Weakness and wasting of the muscles around the eyes and mouth, and of the shoulders, upper arms and lower legs initially, with later weakness of abdominal muscles and sometimes hip muscles.
Progression: Progresses slowly with some periods of rapid deterioration. Disease may span many decades.
Inheritance: Autosomal dominant; the disease may be inherited through either the father or mother, or it may occur without a family history.
 
Myotonic Dystrophy (MMD) (Also known as Steinert's Disease)    [read more]
Onset: Congenital form appears at birth. More common form may begin in teen or adult years.
Symptoms: Generalized weakness and muscle wasting first affecting the face, lower legs, forearms, hands and neck, with delayed relaxation of muscles after contraction. Other symptoms involve the gastrointestinal system, vision, heart or respiration. Learning disabilities occur in some cases. Congenital myotonic dystrophy is the more severe form.
Progression: Progression is slow, sometimes spanning 50 to 60 years.
Inheritance: Autosomal dominant; the disease may be inherited through either the father or the mother.
 
Oculopharyngeal Muscular Dystrophy (OPMD)    [read more]
Onset: Usually not until the 40s or 50s.
Symptoms: OPMD first causes weakness of the muscles of the eyelids and throat; weakness of facial and limb muscles often occurs later. Swallowing problems and difficulty keeping the eyes open are common problems.
Progression: Slow.
Inheritance: May be autosomal dominant, meaning OPMD is inherited from one parent; or autosomal recessive, occurring when a faulty gene is inherited from each parent.
 
Distal Muscular Dystrophy (DD)    [read more]
Onset: Childhood to adulthood.
Symptoms: Weakness and wasting of muscles of the hands, forearms and lower legs.
Progression: Slow-progression; not life-threatening.
Inheritance: May be autosomal dominant, meaning a faulty gene is inherited from one parent; or autosomal recessive, occurring when a faulty gene is inherited from each parent.
 
Congenital Muscular Dystrophy (CMD)    [read more]
Onset: At or near birth.
Symptoms: Generalized muscle weakness with possible joint stiffness or looseness. Depending on the type, CMD may involve spinal curvature, respiratory insufficiency, mental retardation or learning disabilities, eye defects or seizures.
Progression: Varies with type; many are slowly progressive; some shorten life span.
Inheritance: Autosomal recessive or autosomal dominant; these diseases are sometimes inherited through both parents and sometimes inherited from one parent. They can also occur spontaneously because of a newly developed genetic flaw (mutation).
 
Motor Neuron Diseases:
Amyotrophic Lateral Sclerosis (ALS) (Also known as Lou Gehrig's Disease)    [read more]
Onset: Usually adulthood.
Symptoms: Generalized weakness and muscle wasting with cramps and muscle twitches common.
Progression: ALS first affects legs, arms and/or throat and mouth muscles but ultimately affects all voluntary muscles, resulting in paralysis. Usually progresses rapidly with 3- to 5-year average survival, but progression and survival times vary.
Inheritance: Primarily sporadic (arises spontaneously), but can be autosomal dominant and, in very rare cases, autosomal recessive.
 
Spinal Muscular Atrophy Type 1 (Also known as SMA1, Werdnig-Hoffman)    [read more]
Onset: Before birth to 6 months.
Symptoms: Generalized muscle weakness, weak cry, trouble swallowing as well as sucking, and breathing distress. Cannot sit without support.
Progression: Can progress very rapidly with early childhood death. However, most doctors now consider SMN-related SMA to be a continuum of severity and prefer not to make rigid projections about life expectancy or weakness.
Inheritance: Autosomal recessive; a faulty gene must be inherited from each parent. In rare cases, X-linked, meaning the disease affects males but is carried by females.
 
Spinal Muscular Atrophy Type 2 (SMA or SMA2)    [read more]
Onset: 6 to 18 months
Symptoms: Weakness is most severe in muscles closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Respiratory muscles also can be involved. Spinal curvature often develops.
Progression: Usually progresses slowly, and survival into adulthood is common if respiratory status is closely monitored. Most doctors now consider SMN-related SMA to be a continuum of severity and prefer not to make rigid predictions about life expectancy or weakness.
Inheritance: Autosomal recessive; a faulty gene must be inherited from each parent.
 
Spinal Muscular Atrophy Type 3 (SMA3, Kugelberg-Welander Disease)    [read more]
Onset: After 18 months.
Symptoms: Weakness is most severe in muscles closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Respiratory muscle weakness and spinal curvature sometimes develop.
Progression: Disease progresses slowly, with walking ability usually maintained until at least adolescence. Wheelchair often required later in life. Life span usually not affected. Most doctors now consider SMN-related SMA to be a continuum of severity and prefer not to make rigid predictions about life expectancy or weakness. Some experts call the milder end of the SMA3 spectrum “adult-onset SMA” or "SMA4."
Inheritance: Autosomal recessive; a faulty gene must be inherited from each parent.
 
Spinal Bulbar Muscular Atrophy (SBMA) [read more]   
Onset: Adulthood – 30 to 50 years.
Symptoms: Weakness of the muscles of the mouth, throat, face and limbs. Symptoms related to abnormal processing of androgens (male hormones), such as breast enlargement and reduced fertility, also may occur.
Progression: Very slow (over decades)
Inheritance: X-linked recessive (usually affects only men – female carriers may have a mild form).
 
Inflammatory Myopathies:
Dermatomyositis (DM)    [read more]
Onset: Childhood to adulthood.
Symptoms: Distinctive reddish or purplish rash; rough, scaly skin; hard, painful calcium nodules under the skin; weakness of the muscles of the hips, thighs, upper arms, top part of the back, shoulders and muscles that move the neck; possible heart, respiratory and swallowing problems; possible joint pain.
Progression: Gradual; immunosuppressant medications often effectively control symptoms.
Inheritance: Not a genetic disease, though a genetic predisposition may exist.
 
Polymyositis (PM)    [read more]
Onset: Usually begins after age 20; more common in females than in males.
Symptoms: Weakness of the muscles of the hips, thighs, upper arms, top part of the back, shoulders and muscles that move the neck; pain or tenderness in affected areas; possible heart, respiratory and swallowing problems.
Progression: Gradual; immunosuppressant medications often effectively control symptoms.
Inheritance: Not a genetic disease, though a genetic predisposition may exist.
 
Inclusion Body Myositis (IBM)    [read more]
Onset: Primarily among men after age 50 but can affect women.
Symptoms: Weakness of the muscles of the wrists and fingers, those that lift the front of the foot and muscles of the front of the thigh.
Progression: Slowly progressive.
Inheritance: Genetic forms can be dominant or recessive, meaning a faulty gene from each parent may be required or a faulty gene from just one parent may be sufficient to cause symptoms.
 
Disease Of The Neuromuscular Junction:
Myasthenia Gravis (MG)    [read more]
Onset: Usually after age 40; young adults more likely to be women; older adults more likely to be men.
Symptoms: Fatigue and weakness of voluntary muscles; partial paralysis of eye moments, double vision, droopy eyelids; weakness and fatigue in neck and jaws with problems in chewing, swallowing and holding up the head; weakness can become more generalized.
Progression: Weakness fluctuates each day but tends to spread and progress over the course of a few years, if not effectively treated; weakness requiring a wheelchair is almost unheard of; with proper treatment people can remain physically active.
Inheritance: There appears to be a genetic predisposition to autoimmune diseases.
 
Lambert-Eaton Myasthenic Syndrome (LES)    [read more]
Onset: Childhood to adulthood.
Symptoms: Initially, leg weakness and difficulty walking; weakness of the eye muscles, and those involved in talking, chewing and swallowing may occur later; dry mouth, constipation, impotence and bladder urgency sometimes occur; associated with some types of cancer in about 60 percent of cases.
Progression: Depends on whether it occurs with cancer; treatable in all forms.
Inheritance: There appears to be a genetic predisposition to autoimmune diseases.
 
Congenital Myasthenic Syndromes (CMS)    [read more]
Onset: Usually at or near birth, but can manifest in children or adults.
Symptoms: Vary, depending on the type of CMS.
Progression: Varies, depending on the type of CMS.
Inheritance: Autosomal dominant, meaning it can be inherited through either parent; or autosomal recessive, when a faulty gene is inherited from each parent.
 
Myopathies Due To Endocrine Abnormalities:
Hyperthyroid Myopathy (HYPTM)    [read more]
Onset: Average is in 40s.
Symptoms: Weakness and wasting of muscles around shoulders and sometimes hips; possible weakness of muscles in face, throat and in respiratory muscles; possible damage to muscles controlling eyes and eyelids; possible severe attacks of muscle weakness.
Progression: Can usually be alleviated by restoring normal thyroxine levels through medication or surgery.
Inheritance: There appears to be a genetic predisposition to autoimmune diseases.
 
Hypothyroid Myopathy (HYPOTM)    [read more]
Onset: Childhood to adulthood.
Symptoms: Weakness around hips and sometimes shoulders; slowing of reflexes; possible muscle stiffness and cramps; can cause muscle enlargement along with weakness; can cause rhabdomyolysis, a severe breakdown of muscle tissue.
Progression: Usually can be almost completely alleviated by restoring normal thyroxine levels through medication.
Inheritance: There appears to be a genetic predisposition to autoimmune diseases.
 
Diseases Of Peripheral Nerve:
Charcot-Marie-Tooth Disease (CMT) (Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy (PMA))    [read more]
Onset: Birth to adulthood, depending on form.
Symptoms: Muscle weakness and wasting, some loss of sensation in the feet, the lower legs, the hands and the forearms; often, contractures (stiffened joints); sometimes, curvature of the spine (scoliosis).
Progression: Generally slowly progressive.
Inheritance: Autosomal dominant – inheritable through a faulty gene contributed by either parent; autosomal recessive – inheritable through a faulty gene contributed by each parent; and X-linked – inheritable through a gene on the X chromosome contributed by either parent.
 
Dejerine-Sottas Disease (DS) (chromosome 19 recessive form can be called CMT4F)    [read more]
Onset: Infancy or early childhood.
Symptoms: Weakness, especially in the lower legs, forearms, feet and hands, with muscle wasting as disease progresses; reduced muscle tone; loss of sensation, particularly in the lower legs, forearms, feet and hands; curvature of the spine; foot deformities; slow acquisition of motor skills in childhood; occasionally, limitation of eye movements or other eye problems; occasionally, mild hearing loss
Progression: Slow until teens; severe disability eventually may occur.
Inheritance: Autosomal dominant, meaning it can be inherited through a faulty gene contributed by either parent; or autosomal recessive, meaning it can be inherited through a faulty gene contributed by each parent.
 
Friedreich's Ataxia (FA)    [read more]
Onset: Typically between 10 and 15 years but has been diagnosed in people from ages 2 to 50.
Symptoms: Ataxia – loss of balance and coordination – affecting legs and torso first and later arms and hands; possible difficulty with speech and swallowing; weakness, first in legs and then in arms and hands; muscle spasticity (tightness); loss of sensation; skeletal abnormalities; cardiac abnormalities; possible diabetes or glucose intolerance.
Progression: Slow; sequence and severity vary.
Inheritance: Autosomal recessive – inherited through a faulty gene contributed by each parent.
 
Other Myopathies:
Myotonia Congenita (Thomsen Disease; Becker Disease)   [read more]
Onset: Early to late childhood.
Symptoms: Delayed muscle relaxation and muscle stiffness, typically provoked by sudden movements after rest.
Progression: Does not progress.
Inheritance: Becker: autosomal recessive, meaning defective genes are contributed by both parents; Thomsen: autosomal dominant, meaning a defective gene is contributed by one parent.
 
Paramyotonia Congenita (PC)    [read more]
Onset: Episodes of prolonged muscle contraction (inability to relax muscles at will) begin in infancy; episodes of weakness generally begin in adolescence, if they occur at all.
Symptoms: Episodes of prolonged muscle contraction and/or weakness, mostly in face, neck and upper extremities; prolonged contractions sensitive to exercise and cold.
Progression: Does not progress.
Inheritance: Autosomal dominant, meaning a defective gene is contributed by one parent.
 
Central Core Disease (CCD)    [read more]
Onset: Congenital; at or near birth.
Symptoms: Poor muscle tone (hypotonia) and persistent muscle weakness in infants; motor milestones usually reached late; skeletal deformities often occur, including joint dislocations and scoliosis (spinal curvature); susceptibility to malignant hyperthermia, a dangerous adverse reaction to anesthesia.
Progression: Slow or no progression.
Inheritance: Autosomal dominant, in which a defective gene is contributed by one parent; in rare cases, possibly autosomal recessive, in which defective genes are contributed by both parents.
 
Nemaline Myopathy (NM)    [read more]
Onset: Birth to adulthood.
Symptoms: Weakness of muscles needed for feeding and respiration, particularly in infantile-onset disease; generalized weakness and restricted mobility; spinal curvature may occur.
Progression: Infantile-onset cases are most severe; difficulties with feeding and respiration resulting from lack of muscle strength and tone may lead to death; affected children attain motor milestones slowly; may weaken further at puberty.
Inheritance: Autosomal dominant, caused by a defective gene contributed by one parent; also autosomal recessive, caused by defective genes contributed by both parents.
 
Myotubular Myopathy (MTM)/Centronuclear Myopathy (CNM)    [read more]
Onset: X-linked, myotubularin-related myotubular myopathy: infancy; Autosomal recessive forms: from infancy to young adulthood. Autosomal dominant myogenic factor 6-related form: late childhood to adulthood. Autosomal dominant dynamin 2-related form: adolescence to adulthood.
Symptoms: Myotubularin-related form: profound loss of muscle tone, weakness of skeletal muscles, respiratory insufficiency, eye muscle weakness, drooping eyelids. Autosomal recessive forms: weakness mainly in muscles closer to the center of the body (proximal muscles), facial weakness with or without eye muscle weakness. Myogenic factor 6-related form: weakness mainly in muscles closer to the center of the body (proximal muscles), leg cramps, sometimes facial, eye muscle or shoulder muscle weakness. Dynamin 2-related form: weakness mainly in muscles distant from center of body (distal muscles), and in neck and abdominal muscles; drooping eyelids; sometimes eye muscle and facial weakness; normal respiratory function.
Progression: Myotubularin-related form: if respiratory insufficiency is addressed with ventilation, may survive beyond infancy, after which weakness appears nonprogressive. Autosomal recessive forms: slow; usually survive past infancy. Myogenic factor 6-related form: slow. Dynamin 2-related form: slow.
Inheritance: Myotubularin form is X-linked recessive, primarily affecting boys who inherit the disease through their mothers; female carriers may exhibit some symptoms; some forms are autosomal recessive, caused by defective genes contributed by both parents. Myogenic factor 6-related and dynamin 2-related forms are autosomal dominant, caused by only one faulty gene received from either parent.
 
Periodic Paralysis (PP) (Two forms: Hypokalemic and Hyperkalemic)    [read more]
Onset: Hyperkalemic: childhood. Hypokalemic: early childhood to adulthood.
Symptoms: In both forms, episodic attacks of muscle weakness; muscle stiffness (myotonia) can occur in hyperkalemic form.
Progression: In hyperkalemic, frequency of attacks declines after middle age. In hypokalemic, number of attacks varies but severe attacks cause nearly full-blown paralysis; permanent muscle damage can occur.
Inheritance: Both forms are autosomal dominant, caused by a defective gene contributed by one parent.
 
Metabolic Diseases Of Muscle:
Phosphorylase Deficiency (MPD or PYGM) (Also known as McArdle Disease)    [read more]
Onset: Usually before age 15.
Symptoms: Exercise intolerance; cramps, muscle pain and weakness shortly after beginning exercise; “second wind” after resting.
Progression: Generally not progressive, although weakness between episodes of exercise sometimes develops.
Inheritance: Autosomal recessive, caused by the contribution of a defective gene from each parent.
 
Acid Maltase Deficiency (AMD) (Also known as Pompe Disease)    [read more]
Onset: Infancy to adulthood.
Symptoms: Slowly progressive weakness of respiratory muscles and muscles of the hips, upper legs, shoulders and upper arms; cardiac involvement common in infantile-onset form.
Progression: Slowly progressive and less severe in childhood- and adult-onset forms; infantile form usually leads to death within first year of life unless treated early. In April 2006, the U.S. Food and Drug Administration approved Myozyme, an enzyme replacement therapy, for the treatment of acid maltase deficiency in infants. This therapy has significantly improved the prognosis for patients.
Inheritance: Autosomal recessive, caused by the contribution of a defective gene from each parent.
 
Phosphofructokinase Deficiency (PFKM) (Also known as Tarui Disease)    [read more]
Onset: Teens to 30s.
Symptoms: Exercise intolerance, with pain and cramps, made worse by high-carbohydrate meal; myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) after vigorous exercise.
Progression: Not progressive, although weakness between episodes of exercise intolerance may occur late in disease.
Inheritance: Autosomal recessive, caused by the contribution of a defective gene from each parent.
 
Debrancher Enzyme Deficiency (DBD) (Also known as Cori or Forbes Disease)    [read more]
Onset: Infancy to 50s.
Symptoms: Infantile-onset: low blood sugar, seizures, enlarged heart and liver, death in childhood common. Childhood-onset: weakness, enlarged liver, growth retardation, low blood sugar, sometimes seizures. Adult-onset: weakness, exercise intolerance.
Progression: Slowly progressive.
Inheritance: Autosomal recessive, caused by the contribution of a defective gene from each parent.
 
Mitochondrial Myopathy (MITO)    [read more]
Onset: Varies according to disease.
Symptoms: Vary according to disease; in general, nervous system impairment, eye problems, cardiac abnormalities, and disorders of the gastrointestinal tract.
Progression: Varies according to disease.
Inheritance: If defect is in a mitochondrial gene, inheritance is from mother only; if in a nuclear gene, it depends on the gene and is not restricted to maternal inheritance.
 
Carnitine Deficiency (CD)    [read more]
Onset: Infancy to early adulthood.
Symptoms: If confined to muscles, weakness in the hips, shoulders, and upper arms and legs; face and tongue muscles also may be weak; heart muscle weakness may occur. In more severe cases, in which other tissues are affected, also includes low blood sugar, fatigue, vomiting, abdominal pain, growth retardation, low weight, enlarged liver, episodes of brain function abnormalities.
Progression: Usually slowly progressive.
Inheritance: Primary carnitine deficiency usually autosomal recessive, caused by the contribution of a defective gene from each parent. Secondary carnitine deficiency inheritance depends on primary cause.
 
Carnitine Palmityl Transferase Deficiency (CPT)    [read more]
Onset: Infancy to adulthood.
Symptoms: Episodic muscle pain, stiffness and tenderness; myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) can occur; usually brought on by prolonged intense exercise, but illness, cold, stress, menstruation can also provoke symptoms.
Progression: If enzyme is completely lost, rapid progression leading to death in infancy; if some enzyme activity remains, little or no progression with normal strength between episodes.
Inheritance: Generally autosomal recessive, caused by the contribution of a defective gene from each parent; some genetic defects cause symptoms even if the gene from only one parent contains the defect (mutation).
 
Phosphoglycerate Kinase Deficiency    [read more]
Onset: Infancy to early adulthood.
Symptoms: May cause anemia, enlargement of the spleen, mental retardation and epilepsy (seizures); more rarely, weakness, exercise intolerance, muscle cramps and episodes of myoglobinuria (rust-colored urine indicating breakdown of muscle tissue).
Progression: Muscle symptoms slowly progressive.
Inheritance: X-linked recessive, mostly affects males, although females are carriers.
 
Phosphoglycerate Mutase Deficiency    [read more]
Onset: Childhood to early adulthood.
Symptoms: Exercise intolerance, cramps, muscle pain and, sometimes, myoglobinuria (rust-colored urine indicating breakdown of muscle tissue); permanent weakness is rare.
Progression: Slowly progressive or not progressive.
Inheritance: Autosomal recessive, caused by the contribution of a defective gene from each parent.
 
Lactate Dehydrogenase Deficiency    [read more]
Onset: Early adulthood.
Symptoms: Exercise intolerance, episodes of myoglobinuria (rust-colored urine indicating breakdown of muscle tissue); a skin rash is common.
Progression: Not progressive.
Inheritance: Autosomal recessive, caused by the contribution of a defective gene from each parent.
 
Myoadenylate Deaminase Deficiency    [read more]
Onset: Adulthood.
Symptoms: Exercise intolerance, cramps and muscle pain; often no symptoms appear.
Progression: Not progressive.
Inheritance: Autosomal recessive, caused by the contribution of a defective gene from each parent.
 
 
 
 
     
     
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