Muscle & Nerve Biopsy Diagnostic Laboratory

The Muscle and Nerve Biopsy Diagnostic Laboratory of the Division of Neuromuscular Medicine is a CLIA (Clinical Laboratory Improvement Amendments) approved clinical laboratory, which processes muscle and nerve biopsies for the diagnosis of a variety of neuromuscular disorders. Muscle biopsies are frozen, sectioned, and stained to detect morphological and enzymatic abnormalities using a panel of 15 different stains. Special staining is performed on frozen muscle sections for a number of immunohistochemical proteins: dystrophin (3 antibodies), sarcoglycans (4 antibodies), merosin and emerin. Muscle or nerve specimens may also be stained for amyloid (Congo Red) when indicated. Tissues are routinely embedded into epoxy for electron microscopy (EM) evaluation, if results of the initial processing warrant further investigation. Morphometry of skeletal muscle by EM will be performed as determined by the clinical consultants and referring physician. Sural nerve biopsies are processed using several techniques. Portions are frozen, sectioned, and stained to observe general morphology of the specimen. In addition, parts are osmicated then teased apart to examine the myelin layer for abnormalities. Another part of the specimen is embedded into epoxy in order to observe the specimen at high magnification via electron microscopy (EM). In this way, abnormalities may be examined at the ultrastructural level. Contact Janice Caliendo, MS for further information at 312-908-8264 or jca753@northwestern.edu.

Genetic Testing

Genetic testing is available on a research basis for several genes causing neuromuscular disorders, including SOD1, ALSIN, FUS, TDP43 (TAR43), SPG-11 and vitamin E deficiency. For further information contact Sandra Donkervoort MS, CGC at 312-503-0154 or s-donkervoort@northwestern.edu or Nailah Siddique RN MSN at 312-503-2712 or nsiddique@northwestern.edu.

Neurologic Testing Center

Electrophysiologic studies, including electromyography (EMG) and nerve conduction studies are available through this center. Referrals are made through one of our associate clinics.

By Check

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On the memo line indicate the funds are for research of Dr. Teepu Siddique.

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Annette Lyles

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Northwestern University Feinberg School of Medicine

303 East Chicago Ave

Chicago IL 60611

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Q-Z

Mitochondrial Myopathy

Symptoms are generalized muscle weakness, flaccid neck muscles and sometimes an inability to walk. Brain involvement may cause seizures, deafness, loss of balance, and mental retardation. Onset varies from early infancy to adulthood with variable progression. Inheritance is maternal mitochondrial, autosomal dominant, or autosomal recessive. (Read more about Mitochondrial Myopathy)

Carnitine Deficiency

Symptoms are variable weakness of shoulders, hips, face, and neck muscles. Onset ranges from early infancy to adulthood with variable progression; carnitine supplementation is often effective. Inheritance is autosomal recessive. ( Read more about Carnitine Deficiency)

Carnitine Palmityl Deficiency

Symptoms are the inability to sustain moderate prolonged exercise or fasting due to the chance of causing severe muscle destruction, urine discoloration, and kidney damage. Onset is young adulthood with variable severity. Inheritance is autosomal recessive. (Read more about Carnitine Palmityl Deficiency)

Phosphoglycerate Kinase Deficiency

Symptoms are muscle pain and weakness, with muscle damage and urine discoloration possible during intense exercise of brief duration. Onset ranges from childhood to adolescence. Progression is variable, and avoidance of extreme exercise is recommended. Inheritance is X-linked recessive or autosomal recessive. (Read more about Phosphoglycerate Kinase Deficiency)

Lactate Dehydrogenase Deficiency

Symptoms are variable weakness of shoulders, hips, face, and neck muscles. Onset ranges from early infancy to adulthood with variable progression; carnitine supplementation is often effective. Inheritance is autosomal recessive. (Read more about Carnitine Deficiency)

Monoadenylate Deaminase Deficiency

Symptoms are variable weakness of shoulders, hips, face, and neck muscles. Onset ranges from early infancy to adulthood with variable progression; carnitine supplementation is often effective. Inheritance is autosomal recessive. (Read more about Carnitine Deficiency)

Charcot-Marie-Tooth Disease (CMT)

Symptoms are weakness and atrophy of the muscles of the hands and lower legs, with foot deformities and some loss of sensation in the feet. Onset occurs in childhood to early adulthood with progression being slow but variable and not affecting life expectancy. Inheritance is autosomal dominant, autosomal recessive, and X-linked recessive. (Read more about CMT)

Dejerine-Sottas Disease

Symptoms are similar to CMT, however more severe with delayed motor development in childhood, weakness and muscle wasting of the hands and lower legs, and some loss of sensation in the feet. Onset ranges from early childhood with progression being variable. Inheritance is believed to be autosomal dominant (Read more about Dejerine Sottas Disease)

Freidreich's Ataxia (FA)

Symptoms are impairment of limb coordination with weakness, muscle wasting, and sometimes diabetes and heart disease. Onset ranges from childhood to adolescence with progression and severity varying. Inheritance is autosomal recessive. (Read more about Freidreich's Ataxia)

Duchenne Muscular Dystrophy (DMD)

Symptoms of generalized muscle weakness and muscle wasting affecting limb and trunk muscles first with enlarged calves. The disease progresses slowly, with an onset about 2-6 years. Survival is rarely beyond late twenties. Inheritance is X-linked recessive. (Read more about DMD)

Becker Muscular Dystrophy (BMD)

Symptoms are almost identical to Duchenne muscular dystrophy with regards to the muscle weakness and wasting, but is often much less severe. There can be significant heart involvement. The disease progresses slowly, with an onset in adolescence or adulthood, with survival well into mid to late adulthood. Inheritance is X-linked recessive. (Read more about BMD)

Emery-Dreifuss Muscular Dystrophy (EDMD)

Symptoms are weakness and wasting of the shoulder, upper arms, and shin muscles with possible joint deformities. Cardiac involvement is common. The disease progresses slowly, with an onset in childhood to early teens. Inheritance is X-linked recessive the majority of the time. (Read more about EDMD)

Limb-Girdle Muscualr Dystrophy (LGMD)

Symptoms are weakness and wasting affecting shoulder and pelvic girdle muscles. Cardiopulmonary complications occur in later stages of the disease. The disease progresses slowly with onset in childhood to middle age. Inheritance is autosomal recessive or X-linked. (Read more about LGMD)

Facioscapulohumeral Muscular Dystrophy (FSHD)

Symptoms are facial muscle weakness and wasting of the shoulders and upper arms. The disease progresses slowly with some periods of rapid deterioration with onset in childhood to early adulthood. The disease may span many decades. Inheritance is autosomal dominant. (Read more about FSHD)

Myotonic Dystrophy (DM)

Symptoms are generalized weakness and muscle wasting affecting the face, hands, feet and neck. People experience delayed relaxation of muscles after contraction. Progression is slow with onset in childhood to middle age, however there are some forms of congenital myotonic dystrophy that can be more severe. Inheritance is autosomal dominant. (Read more about DM)

Oculopharyngeal Muscular Dystrophy (OPMD)

Symptoms occur as weakness of the in the muscles of the eyelid and throat. Progression is slow and swallowing problems are common as the disease progresses; onset is early adulthood to middle age. Inheritance is autosomal dominant. (Read more about OPMD)

Distal Muscular Dystrophy (DD)

Symptoms are weakness and wasting of muscles of the hands, forearms, and lower legs. Onset is between 40 to 60 years. It progresses slowly and is not life threatening. Inheritance is autosomal dominant. (Read more about DD)

Congenital Muscular Dystrophy (CMD)

Symptoms are generalized muscle weakness with possible joint deformities. Progression is very slow but onsets at birth. Inheritance is autosomal dominant and autosomal recessive. (Read more about CMD)

Hyperthyroid Myopathy

Symptoms are weakness of the upper arm and upper leg muscles with some muscle wasting. Onset ranges from childhood to adulthood with progression and symptoms improving with treatment of the underlying thyroid condition. (Read more about Hyperthyroid Myopathy)

Hypothyroid Myopathy

Symptoms are weakness of farm and leg muscles with stiffness and muscle cramping. Onset ranges from childhood to adulthood with progression and symptoms improving with treatment of the underlying thyroid condition. (Read more about Hypothyroid Myopathy)

Polymyositis (PM)

Symptoms are weakness of neck and limb muscles; muscle pain; and sometimes associated with malignancy. Onset ranges from childhood to late adulthood with progression and severity varying as well. This disease can respond to drug therapy. (Read more about Polymyositis)

Dermatomyositis

Symptoms are weakness of the neck and limb muscles, muscle pain, and skin rashes affecting the cheeks, eyelids, neck, chest, and limbs. Onset ranges from childhood to late adulthood with progression and severity varying as well. This disease can respond to drug therapy. (Read more about Dermatomyositis)

Inclusion Body Myositis (IBM)

Symptoms are weakness of arms, legs, hands, especially the thighs, wrists, and fingers. Onset is typically after 50 years with progression being slow. ( Read more about IBM)

Amyotrophic Lateral Sclerosis (ALS) (Lou Gehrig's Disease)

Symptoms are generalized weakness and muscle wasting with muscle twitches. Onset is in adulthood and progression is rapid, with the average survival being 3-5 years. ALS is usually sporadic, with some cases having autosomal dominant or autosomal recessive inheritance. (Read more about ALS)

Spinal Muscular Atrophy Type 1 (SMA Type 1)

Symptoms are generalized muscle weakness, weak cry, difficulty swallowing and sucking, and respiratory problems. Onset is between birth and 3 months with rapid progression leading to early childhood death. Inheritance is autosomal recessive. (Read more about SMA)

Spinal Muscular Atrophy Type 2 (SMA Type 2)

Symptoms are weakness in arms, legs, and upper and lower torso. Onset is between 6-12 months with progression varying according to the extent of respiratory involvement. Inheritance is autosomal recessive. (Read more about SMA)

Spinal Muscular Atrophy Type 3 (SMA Type 3)

Symptoms are weakness in leg, hip, shoulder, arm, and sometimes respiratory muscles. Onset is between 13 months and adolescence with slow progression and no effect on lifespan. Inheritance is autosomal recessive. (Read more about SMA)

Spinal Muscular Atrophy Adult Type (SMA Adult Type)

Symptoms are generalized weakness and muscle wasting with muscle twitching. Onset is over 18 years into adulthood with variable progression and normal life expectancy. Inheritance is autosomal recessive. (Read more about SMA)>

Spinal Bulbar Muscular Atrophy (SBMA) (Kennedy's Disease)

Symptoms are weakness and muscle wasting of the bulbar muscles (throat and mouth) and skeletal muscles. Facial and muscle jumping is common; breast development, infertility and testicular wasting can occur. It usually affects only men. Females are carriers who are usually asymptomatic or have a mild form. Onset is adulthood with progression being slow and variable with normal lifespan. Inheritance is X-linked recessive. (Read more about SBMA)

Myotonia Congenita (Thomsen's and Becker's Myotonia Congenita)

Symptoms are muscle stiffness and cramps usually occurring after periods of rest; however muscle function returns to normal with activity. Onset ranges from infancy to childhood with the disease causing discomfort but normal life-expectancy. Inheritance is autosomal dominant and autosomal recessive. (Read more about Mytonia Congenita)

Paramyotonia Congenita

Symptoms are poor or difficult relaxation of muscles which may worsen after repeated use or exercise and is often associated with hyperkalemic periodic paralysis. Onset is childhood to early adulthood with the disease causing discomfort but normal life-expectancy. Inheritance is autosomal dominant. (Read more about Paramyotonia Congenita)

Central Core Disease

Symptoms are delayed motor development with possible hip dislocation at birth. Onset is early infancy to childhood with progression varying such that it may be disabling. Inheritance is autosomal dominant. (Read more about Central Core Disease)

Nemaline Myopathy

Symptoms are delayed motor development with weakness of arms, legs, trunk, face, and throat muscles. Onset is in early childhood with progression varying and may be life-threatening. Inheritance is autosomal dominant or autosomal recessive. (Read more about Nemaline Myopathy)

Myotubular Myopathy

Symptoms are drooping of upper eyelids, facial weakness, blackout spells, weakness of the limbs and trunk muscles, and absent reflexes. Onset is infancy with slow progression. Inheritance is X-linked recessive, autosomal recessive, or autosomal dominant. (Read more about Myotubular Myopathy)

Periodic Paralysis (Hypokalemic - HYPOP or Hyperkalemic - HYPP)

Symptoms are episodes of generalized muscle weakness with periods of paralysis affecting arms, legs, and neck. Onset ranges from childhood to adulthood with varying frequency of the attacks. These diseases may respond to drug therapy. Inheritance is autosomal dominant. (Read more about Periodic Paralysis)

Myasthenia Gravis (MG)

Symptoms are weakness and fatigability of the muscles of the eyes, fact, neck, throat, limbs, and/or trunk. Onset ranges from childhood to adulthood with progression varying. This disease can respond to drug therapy or removal of the thymus gland as an effective treatment. ( Read more about MG)

Lambert-Eaton Syndrome(LES)

Symptoms include weakness and fatigue of the hip muscles with aching back and thigh muscles common; sometimes associated with lung tumors. Onset is typically during adulthood with progression varying based on the success of drug therapy and treatment of malignancy. (Read more about Lambert-Eaton Syndrome)

Congenital Myasthenic Syndrome (CMS)

Symptoms are generalized weakness and fatigability of voluntary muscles including those that control mobility, eye movement, swallowing, and breathing. Onset is infancy or childhood, however can be later, with progression varying in severity. ( Read more about CMS)