Glossary for Footdrop

• Abnormal gait: An abnormal way of walking
• Amyotrophy, neurogenic scapuloperoneal, New England type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The exact symptoms that occur may vary from patient to patient with males often being more affected than females. An interesting observation of this condition is that symptoms and rate of progression tends to be more severe with each passing generation.
• Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
• Autosomal recessive limb-girdle muscular dystrophy, type 2G:
• Charcot-Marie-Tooth disease -- deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
• Charcot-Marie-Tooth disease, Type 1A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant pattern and involves the duplication of the PMP22 gene on chromosome 17.
• Charcot-Marie-Tooth disease, Type 1B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant pattern and involves a defect in the MPZ gene on chromosome 1. The severity of the condition is variable depending on the age of onset with severe infantile cases resulting in the inability to walk at an early age.
• Charcot-Marie-Tooth disease, Type 1C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant pattern and involves a defect in the LITAF/SIMPLE gene on chromosome 16.
• Charcot-Marie-Tooth disease, Type 1D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1D is caused by a defect of the ERG2 gene on chromosome 10 and usually results in a severe form of the disease.
• Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
• Charcot-Marie-Tooth disease, Type 1F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1F is caused by a defect of a gene in chromosome 8 and involves the neurofilament light chain protein.
• Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
• Charcot-Marie-Tooth disease, Type 2AI: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A1 has an autosomal dominant inheritance and involves a defect in the KIF1B gene on chromosome 1p36.
• Charcot-Marie-Tooth disease, Type 2C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in chromosome 12 and involves diaphragm and vocal cord weakness as well as hand and foot problems.
• Charcot-Marie-Tooth disease, Type 2D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2D has an autosomal dominant inheritance and involves a defect in the glycyl RNA synthetase gene on chromosome 7p15. The hands tend to be more severely affected than the feet.
• Charcot-Marie-Tooth disease, Type 2E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in the neurofilament light gene on chromosome 8p21.
• Charcot-Marie-Tooth disease, Type 2F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and involves a defect in the HSPB1 gene on chromosome 7.
• Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.
• Charcot-Marie-Tooth disease, Type 4B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B1 has an autosomal recessive inheritance and involves a defect in MTMR2 gene on chromosome 11.
• Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.
• Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.
• Charcot-Marie-Tooth disease, Type 4F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect in the PRX gene on Chromosome 19q13.
• Charcot-Marie-Tooth disease, Type 4G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4G has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect on Chromosome 10.
• Charcot-Marie-Tooth disease, X-linked, 1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X1 is an inherited defect of the X chromosome (defect in GJB1 gene) and affects males to a greater degree than females. Transient central nervous system symptoms are also sometimes involved.
• Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
• Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
• Common peroneal nerve dysfunction: A condition resulting from damage to the peroneal nerve which branches from the sciatic nerve and allows for movement and sensation in the lower legs and feet. Damage to the nerve can be caused by knee injury or trauma, lower leg bone fracture, constriction of the lower leg or even persistent crossing of the legs.
• Congenital hepatic porphyria: A rare congenital disorder where there is an excess of porphyrin (pigments) in the body. The liver is responsible for making porpyrins.
• Foot conditions: Any condition that may affect the foot
• Hypertrophic neuropathy of Dejerine-Sottas: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in numbness, muscle weakness and loss of function. The severity of the condition is variable.
• Limb conditions: Medical conditions affecting the upper or lower limbs.
• Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the gamma-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Limb-girdle muscular dystrophy type 2D: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the alpha-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Limb-girdle muscular dystrophy type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Limb-girdle muscular dystrophy type 2F: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the delta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Limb-girdle muscular dystrophy type 2G: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the telethonin protein.
• Lower limb conditions: Any medical condition affecting the lower limbs, i.e. the legs, knees, feet, etc..
• Motor and Sensory Neuropathy with Sensorineural Hearing Loss, Bouldin type: A rare condition observed in two sibling and characterized by hearing loss during adulthood and motor and sensory neuropathy.
• Muscle conditions: Any condition that affects the muscles of the body
• Muscular dystrophy, limb-girdle, autosomal recessive, type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
• Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant: A rare form of genetic muscle disease which starts during adulthood.
• Nervous system conditions: Diseases affecting the nerves and the nervous system.
• Neuropathy hereditary sensory and autonomic type 1: A neurological condition which can start in late childhood or adulthood and progresses slowly. It involves mainly sensory loss in the hands and feet as well as autonomic symptoms.
• Neuropathy, Hereditary Sensory and Autonomic Type I: Type I hereditary sensory neuropathy is an inherited condition characterized by progressive degeneration of the nervous system which manifests primarily as loss of sensation in the hands and feet. The sensory loss is worse in the feet and legs than the hands and arms. Muscle wasting and weakness of variable severity tends to occur after sensory loss.
• Neuropathy, Hereditary Sensory, Type I: Type I hereditary sensory neuropathy is an inherited condition characterized by progressive degeneration of the nervous system which manifests primarily as loss of sensation in the hands and feet. The sensory loss is worse in the feet and legs than the hands and arms. Muscle wasting and weakness of variable severity tends to occur after sensory loss.
• Sarcoglycanopathy: A form of limb-girdle muscular dystrophy involving abnormalities of the sarcoglycan protein which results in progressive muscle weakness. The severity is greatly variably from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Scapuloperoneal amyotrophy: An inherited disorder characterized by muscle wasting and weakness in the shoulder and lower leg.
• Scapuloperoneal myopathy: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg.
• Scapuloperoneal myopathy, MYH7-related: A dominantly inherited disorder involving muscle wasting and weakness that occurs mainly in the shoulder and lower leg muscles. It results from a defect in the MYH7 gene on chromosome 14q12.
• Scapuloperoneal myopathy, X-linked dominant: An inherited disorder involving muscle wasting and weakness that occurs mainly in the shoulder girdle and lower leg muscles. It results from a defect in the FHL1 gene on chromosome Xq27.2.
• Scapuloperoneal syndrome, neurogenic type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The legs are often affected first.
• Scapuloperoneal syndrome, neurogenic, Kaeser type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The legs are often affected first.
• Sensory neuropathy type 1: Type I sensory neuropathy is an inherited condition characterized by progressive degeneration of the nervous system which manifests primarily as loss of sensation in the hands and feet. The sensory loss is worse in the feet and legs than the hands and arms. Muscle wasting and weakness of variable severity tends to occur after sensory loss.
• Spinal muscular atrophy, scapuloperoneal: A recessively inherited disorder involving muscle wasting and weakness that occurs mainly in the shoulder and lower leg girdle muscles. It results from a loss of motor neurons in the spinal cord and brainstem.
• Steppage gait: Walking abnormalities are unusual and uncontrollable walk patterns, usually caused by diseases or injuries to the legs, feet, brain, spine, or inner ear.

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