FYI - NEUROMUSCULAR DISEASES / symptoms

[Guest guest]

Kat here.

This is a list of Neuromuscular diseases, followed by a list of symptoms.

I don't know if either list is comprehensive.

I think that seeing lists like this should help put things in perspecitve.

This is why CMT is not considered to be terribly important, other than to

CMTers and their families. (These are just neuromuscular. There are many

other types of diseases as well.)

This also helps show why a few folks have so much trouble getting a definite

diagnosis.

LIST OF NEUROMUSCULAR DISEASES

http://web1.tch.harvard.edu/neurology/neuromus/diagnos.html

The Neuromuscular/MDA Clinic sees patients with the following diagnoses:

* Duchenne muscular dystrophy

* Intermediate dystrophinopathy

* Becker muscular dystrophy

* Emery-Dreifuss muscular dystrophy

* Limb-girdle muscular dystrophy

* Facioscapulohumeral muscular dystrophy

* Myotonic muscular dystrophy

* Oculopharyngeal muscular dystrophy

* Distal muscular dystrophy

* Congenital muscular dystrophy

* Amyotrophic lateral sclerosis

* Spinal muscular atrophy, types I, II, and III

* Spastic paraplegia

* Inflammatory myopathy

* Dermatomyositis

* Inclusion body myositis

* Myasthenia gravis

* Eaton-Lambert syndrome

* Myasthenic syndrome

* Hereditary motor and sensory neuropathy, types I, II, and III

* Chronic inflammatory demyelinating neuropathy

* Hereditary neuropathy/pressure palsies

* Guillain-Barre syndrome

* Neuropathy, unspecified

* Friedreich's ataxia

* Spinocerebellar ataxia

* Phosphorylase deficiency

* Acid maltase deficiency

* Phosphofructokinase deficiency

* Debrancher enzyme deficiency

* Carnitine deficiency

* Carnitine palmitoyltransferase deficiency

* Fatty-acid oxidation defect

* Nemaline myopathy

* Centronuclear myopathy

* Congenital fiber-type disproportion

* Congenital myopathy, other

* Minimal change myopathy

* Congenital myopathy, unspecified

* Myotonia congenita

* Paramyotonia congenita

* Periodic paralysis

* Malignant hyperthermia

* Hypotonia, central

* Hypotonia, peripheral

* Developmental delay, gross motor

* Global developmental delay

* Arthrogryposis

* Spastic diplegia

* Spastic quadriparesis

* Hypotonic cerebral palsy

* Athetoid cerebral palsy

* Dystonia, focal

* Dystonia, generalized

* Torticollis

* Entrapment neuropathy

* Brachial plexopathy

* Radiculopathy

* Reflex sympathetic dystrophy

* Mononeuropathy

* Mitochondrial myopathy

* Mitochondrial encephalomyopathy

* Mitochondrial cytopathy

* Phosphoglycerate kinase deficiency

* Phosphoglycerate mutase deficiency

* Lactate dehydrogenase deficiency

* Myoadenylate deaminase deficiency

* Metabolic myopathy, unspecified

* Intensive care myopathy

* Intensive care polyneuropathy

* Central core disease

http://web1.tch.harvard.edu/neurology/neuromus/complnt.html

Complaints and Symptoms

The Neuromuscular/MDA Clinic see patients with the following

complaints/symptoms:

* Weakness, paralysis

* Low muscle tone (hypotonia)

* Muscle pain, cramps

* Exercise intolerance, fatiguability

* Muscle stiffness, spasms

* Increased muscle tone

* Muscle inflammation/infection

* Muscle wasting (atrophy)

* Elevated muscle enzymes (CPK)

* Delayed gross-motor development

* Delayed fine-motor development

* Global developmental delay

* Clumsiness

* Torticollis (head tilt)

* Gait disturbance

* Spinal cord problems

* Sensory symptoms (numbness, tingling, loss of sensation, pain)

* Toe walking

* Foot/hand deformities

* Joint contractures

* Weakness of the face

* Ptosis (droopy eyelids)

* Weakness of eye muscles

* Possible myasthenia

* Feeding difficulties

* Arm weakness after birth

* Nerve injuries

* Nerve inflammation

* Back pain

* Persistent pain following trauma or surgery

* Poor balance

* Family history of muscle or nerve disease

* Abnormal posturing of body or extremities

* Scoliosis

* Orthopedic problems related to muscle disease

* Myoglobinuria

* History of malignant hyperthermia