Malattie neuromuscolari nel programma della  MDA

Aggiornato: 29/01/99
(I nomi alternativi e le abbreviazioni di uso comune sono messe fra parentesi)

Miopatia mitocondriale (MITO)    [vedi anche]
Insorgenza:	Dalla prima infanzia all'età adulta.
Sintomi:	Debolezza muscolare generalizzata, muscoli del collo flaccidi ed incapacità a camminare. Spesso è coinvolto il cervello, con convulsioni, sordità, perdita dell'equilibrio e della visione, e ritardo generale.
Progressione:	Ampia varietà di progressione e gravità.
Ereditarietà:	Gene mitocondriale materno (mtDNA).
Phosphorylase Deficiency (MPD or PYGM) (Also known as McArdle's Disease)    [read more]
Onset:	Childhood to adolescence.
Symptoms:	Muscle cramps usually occurring after exercise. Intense exercise can cause muscle destruction and possible kidney damage.
Progression:	Variable severity and progression.
Inheritance:	Autosomal recessive.
Acid Maltase Deficiency (AMD) (Also known as Pompe's Disease)    [read more]
Onset:	Infancy to adulthood.
Symptoms:	In infant form, disease is generalized and severe, with heart, liver and tongue enlargement common. Adult form involves weakness of upper arms and legs, trunk and respiratory muscles.
Progression:	Progression varies.
Inheritance:	Autosomal recessive.
Phosphofructokinase Deficiency (PFKM) (Also known as Tarui's Disease)    [read more]
Onset:	Childhood.
Symptoms:	Muscle fatigue that, upon exercise, can lead to severe cramps, nausea, vomiting, muscle damage and discoloration of urine.
Progression:	Progression varies widely.
Inheritance:	Autosomal recessive.
Debrancher Enzyme Deficiency (DBD) (Also known as Cori's or Forbes' Disease)    [read more]
Onset:	Early childhood in first year.
Symptoms:	Generalized weakness and muscle wasting. Enlarged liver in infancy. Episodes of low blood sugar.
Progression:	Slow to variable progression. Muscular symptoms may be delayed until early teens and adulthood.
Inheritance:	Autosomal recessive.
Carnitine Deficiency (CD)    [read more]
Onset:	Early childhood.
Symptoms:	Varied weakness of shoulders, hips, face and neck muscles.
Progression:	Progression varies and carnitine supplementation is often effective.
Inheritance:	Autosomal recessive.
Carnitine Palmityl Transferase Deficiency (CPT)    [read more]
Onset:	Young adulthood.
Symptoms:	Inability to sustain moderate prolonged exercise. Prolonged exercise and/or fasting can cause severe muscle destruction with urine discoloration and kidney damage.
Progression:	Severity varies.
Inheritance:	Autosomal recessive.
Phosphoglycerate Kinase Deficiency (PGK)    [read more]
Onset:	Childhood to adolescence.
Symptoms:	Muscle pain and weakness, with muscle damage and urine discoloration possible after vigorous exercise.
Progression:	Severity varies. Avoid intense exercise.
Inheritance:	X-linked recessive, autosomal recessive.
Phosphoglycerate Mutase Deficiency (PGAM or PGAMM)    [read more]
Onset:	Childhood to adulthood.
Symptoms:	Muscle pain, cramps, muscle damage and urine discoloration possible during intense exercise of brief duration.
Progression:	Severity varies. Avoid intense exercise.
Inheritance:	Autosomal recessive.
Lactate Dehydrogenase Deficiency (LDHA)    [read more]
Onset:	Childhood to adolescence.
Symptoms:	Exercise intolerance with muscle damage and urine discoloration possible following strenuous physical activity.
Progression:	Severity varies. Avoid intense exercise.
Inheritance:	Autosomal recessive.
Myoadenylate Deaminase Deficiency (MAD)    [read more]
Onset:	Early adulthood to middle age.
Symptoms:	Muscle fatigue and weakness during and after exertion, with muscle soreness or cramping. May not attain prior performance levels.
Progression:	Severity varies. Usually nonprogressive and non-debilitating.
Inheritance:	Autosomal recessive.

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 affecting limb and trunk muscles first. Calves often enlarged.
Progression:	Disease progresses slowly but will affect all voluntary muscles. Survival rare beyond late twenties.
Inheritance:	X-linked recessive (females are carriers).
Becker Muscular Dystrophy (BMD)    [read more]
Onset:	Adolescence or adulthood.
Symptoms:	Almost identical to Duchenne but often much less severe. Can be significant heart involvements.
Progression:	Slower and more variable than Duchenne with survival well into mid to late adulthood.
Inheritance:	X-linked recessive (females are carriers).
Emery-Dreifuss Muscular Dystrophy (EDMD)    [read more]
Onset:	Childhood to early teens.
Symptoms:	Weakness and wasting of shoulder, upper arm and shin muscles. Joint deformities are common.
Progression:	Disease usually progresses slowly. Frequent cardiac complications are common.
Inheritance:	X-linked recessive (females are carriers).
Limb-Girdle Muscular Dystrophy (LGMD)    [read more]
Onset:	Childhood to middle age.
Symptoms:	Weakness and wasting affecting shoulder and pelvic girdles first.
Progression:	Usually progresses slowly with cardiopulmonary complications often occurring in later stages of the disease.
Inheritance:	Autosomal recessive, X-linked recessive.
Facioscapulohumeral Muscular Dystrophy (FSH or FSHD) (Also known as Landouzy-Dejerine)    [read more]
Onset:	Childhood to early adulthood.
Symptoms:	Facial muscle weakness, with weakness and wasting of the shoulders and upper arms.
Progression:	Progresses slowly with some periods of rapid deterioration. Disease may span many decades.
Inheritance:	Autosomal dominant.
Myotonic Dystrophy (MMD) (Also known as Steinert's Disease)    [read more]
Onset:	Childhood to middle age.
Symptoms:	Generalized weakness and muscle wasting affecting face, feet, hands and neck first. Delayed relaxation of muscles after contraction. Congenital myotonic form is more severe.
Progression:	Progression is slow, sometimes spanning 50 to 60 years.
Inheritance:	Autosomal dominant.
Oculopharyngeal Muscular Dystrophy (OPMD)    [read more]
Onset:	Early adulthood to middle age.
Symptoms:	First affects muscles of eyelid and throat.
Progression:	Slow progression with swallowing problems common as disease progresses.
Inheritance:	Autosomal dominant.
Distal Muscular Dystrophy (DD)    [read more]
Onset:	40-60 years.
Symptoms:	Weakness and wasting of muscles of the hands, forearms and lower legs.
Progression:	Slow progression but not life-threatening.
Inheritance:	Autosomal dominant.
Congenital Muscular Dystrophy (CMD)    [read more]
Onset:	At birth.
Symptoms:	Generalized muscle weakness with possible joint deformities.
Progression:	Disease progresses very slowly. Fukuyama form is more severe and involves mental functions.
Inheritance:	Autosomal recessive, autosomal dominant.

Amyotrophic Lateral Sclerosis (ALS) (Also known as Lou Gehrig's Disease)    [read more]
Onset:	Adulthood.
Symptoms:	Generalized weakness and muscle wasting with cramps and muscle twitches common.
Progression:	ALS first affects legs, arms and/or throat muscles. Usually progresses rapidly with 3 to 5 year average survival.
Inheritance:	Autosomal dominant, autosomal recessive.
Infantile Progressive Spinal Muscular Atrofia (SMA, SMA1 or WH) (Also known as SMA Type 1, Werdnig-Hoffman)    [read more]
Onset:	Before birth to 3 months.
Symptoms:	Generalized muscle weakness, weak cry, trouble swallowing as well as sucking, and breathing distress. Cannot sit up.
Progression:	Progresses very rapidly with early childhood death.
Inheritance:	Autosomal recessive.
Intermediate Spinal Muscular Atrofia (SMA or SMA2) (Also known as SMA Type 2)    [read more]
Onset:	6 months to 3 years.
Symptoms:	Weakness in arms, legs, upper and lower torso, often with skeletal deformities.
Progression:	Disease usually progresses rapidly and respiratory problems may develop.
Inheritance:	Autosomal recessive.
Juvenile Spinal Muscular Atrofia (SMA, SMA3 or KW) (Also known as SMA Type 3, Kugelberg-Welander)    [read more]
Onset:	1 to 15 years.
Symptoms:	Weakness in leg, hip, shoulder, arm and sometimes respiratory muscles.
Progression:	Disease progresses slowly. Wheelchair often required later in life. Life span usually not affected.
Inheritance:	Autosomal recessive.
Spinal Bulbar Muscular Atrofia (SBMA) (Also known as Kennedy's Disease and X-Linked SBMA)    [read more]
Onset:	Adulthood (20 to 50 years - variable severity).
Symptoms:	Weakness and muscle wasting of bulbar region (mouth and throat) and skeletal muscles. Usually affects only men -- women as carriers may have a mild form. Facial fasciculations and mild sensory involvement are common.
Progression:	Slow, variable progression, sometimes accompanied by breast development, infertility and testicular wasting in men. Normal life span.
Inheritance:	X-linked recessive (females are carriers).
Adult Spinal Muscular Atrofia (SMA)    [read more]
Onset:	18 to 50 years.
Symptoms:	Generalized weakness and muscle wasting with muscle twitches common.X-linked form affects men only and involves muscles of mouth and throat as well as other muscles.
Progression:	Variable disease progression. Relatively mild form of SMA with little impact on life expectancy.
Inheritance:	Autosomal dominant, autosomal recessive.

Dermatomyositis (PM/DM)    [read more]
Onset:	Childhood to late adulthood.
Symptoms:	Weakness of neck and limb muscles. Muscle pain and swelling common. Skin rash typically affecting cheeks, eyelids, neck, chest and limbs.
Progression:	Disease progression and severity vary among individuals. Often responds to drug therapy.
Polymyositis (PM/DM)    [read more]
Onset:	Childhood to late adulthood.
Symptoms:	Weakness of neck and limb muscles. Muscle pain and swelling common. Sometimes associated with malignancy.
Progression:	Disease severity and progression vary among individuals. Often responds to drug therapy.
Inclusion Body Myositis (IBM)    [read more]
Onset:	After age 50.
Symptoms:	Weakness of arms, legs and hands, especially thighs, wrists and fingers. Sometimes involves swallowing muscles.
Progression:	Slowly progressive. More common in men than women.

Miastenia grave (MG)    [read more]
Onset:	Childhood to adulthood.
Symptoms:	Weakness and fatigability of muscles of eyes, face, neck, throat, limbs and/or trunk.
Progression:	Disease progression varies. Drug therapy and/or removal of thymus gland often effective.
Lambert-Eaton Syndrome (LES)    [read more]
Onset:	Adulthood to middle age.
Symptoms:	Weakness and fatigue of hip muscles with aching back and thigh muscles common. Lung tumor is sometimes present.
Progression:	Progression varies with success of drug therapy and treatment of any malignancy.
Congenital Myasthenic Syndrome (CMS)    [read more]
Onset:	Infancy or childhood, can be later.
Symptoms:	Generalized weakness and fatigability of voluntary muscles, including those controlling mobility, eye movement, swallowing and breathing.
Progression:	Varies in severity, and weakness can fluctuate.

Hyperthyroid Myopathy (HYPTM)    [read more]
Onset:	Childhood to adulthood.
Symptoms:	Weakness of upper arm and upper leg muscles. Some muscle wasting.
Progression:	Usually improves with treatment of underlying thyroid condition.
Hypothyroid Myopathy (HYPOTM)    [read more]
Onset:	Childhood to adulthood.
Symptoms:	Weakness of arm and leg muscles. Stiffness and muscle cramps common.
Progression:	Usually improves with treatment of underlying thyroid condition.

Charcot-Marie-Tooth Disease (CMT) (Also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrofia (PMA))    [read more]
Onset:	Childhood to young adulthood.
Symptoms:	Weakness and atrofia of muscles of hands and lower legs, with foot deformities and some loss of sensation in feet.
Progression:	Slow but variable progression among individuals. Normal life span.
Inheritance:	Autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant.
Dejerine-Sottas Disease (DS) (Also known as CMT Type 3 or Progressive Hypertrophic Interstitial Neuropathy)    [read more]
Onset:	Early childhood.
Symptoms:	Same as CMT, but more severe.Delayed motor development in childhood. Weakness and muscle wasting affecting hands and lower legs. Variable loss of sensation in feet.
Progression:	Severity and progression of disease vary.
Inheritance:	Believed to be autosomal dominant.
Atassia di Friedreich (FA)    [read more]
Onset:	Childhood to adolescence.
Symptoms:	Impairment of limb coordination, with weakness and muscle wasting.
Progression:	Severity and progression of disorder vary. Often associated with diabetes/heart disease.
Inheritance:	Autosomal recessive.

Myotonia Congenita (MC) (Two forms: Thomsen's and Becker's Disease)    [read more]
Onset:	Infancy to childhood.
Symptoms:	Muscle stiffness and cramps usually occurring after periods of rest. With activity, returns to normal muscle function.
Progression:	Condition causes discomfort but is not life-threatening.
Inheritance:	Autosomal dominant, autosomal recessive.
Paramyotonia Congenita (PC)    [read more]
Onset:	Childhood to early adulthood.
Symptoms:	Poor or difficult relaxation of muscles, which may worsen after repeated use or exercise. Often may be associated with hyperkalemic periodic paralysis.
Progression:	Condition causes discomfort throughout life but is not life-threatening.
Inheritance:	Autosomal dominant.
Central Core Disease (CCD)    [read more]
Onset:	Early infancy to childhood.
Symptoms:	Delayed motor development. Hip displacement at birth not uncommon.
Progression:	Variable severity and progression. May be disabling.
Inheritance:	Autosomal dominant.
Nemaline Myopathy (NM)    [read more]
Onset:	Early childhood.
Symptoms:	Delayed motor development. Weakness of arm, leg, trunk, face and throat muscles.
Progression:	Severity and progression vary. Life expectancy is threatened.
Inheritance:	Autosomal dominant, autosomal recessive.
Myotubular Myopathy (MTM or MM)    [read more]
Onset:	Infancy.
Symptoms:	Drooping of upper eyelids, facial weakness, blackout spells. Weakness of the limbs and trunk muscles. Reflexes usually absent.
Progression:	Slow progression.
Inheritance:	X-linked recessive, autosomal recessive, autosomal dominant.
Periodic Paralysis (PP) (Two forms: Hypokalemic - HYPOP - and Hyperkalemic - HYPP)    [read more]
Onset:	Childhood to adulthood.
Symptoms:	Episodes of generalized muscle weakness with periods of paralysis affecting arms, legs and neck. Hyperkalemic type may be associated with paramyotonia congenita.
Progression:	Frequency of attacks and severity vary. May respond to drug therapy.
Inheritance:	Autosomal dominant.

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