Familial motor neuron disease
ICD-10 G12.24 is a billable code used to indicate a diagnosis of familial motor neuron disease.
Familial motor neuron disease encompasses a group of hereditary conditions characterized by the degeneration of motor neurons in the spinal cord and brain, leading to progressive muscle weakness and atrophy. These diseases are often inherited in an autosomal dominant or recessive pattern, with genetic mutations playing a crucial role in their pathogenesis. The most common form is familial amyotrophic lateral sclerosis (ALS), which typically presents in adulthood and is marked by both upper and lower motor neuron involvement. Patients may experience symptoms such as muscle cramps, stiffness, and difficulty with speech and swallowing. The progression of the disease can vary significantly among individuals, with some experiencing rapid decline while others may have a more protracted course. Diagnosis is primarily clinical, supported by electromyography (EMG) and genetic testing to identify specific mutations associated with familial forms of motor neuron disease. Understanding the hereditary nature of these conditions is essential for genetic counseling and management of affected families.
Comprehensive neurological examination findings, family history, and results of EMG and genetic tests.
Diagnosis of familial ALS, management of symptoms, and genetic counseling for affected families.
Neurologists should ensure thorough documentation of motor function assessments and any referrals for genetic testing.
Detailed family pedigree, genetic test results, and counseling notes.
Assessment of family members for hereditary motor neuron diseases and interpretation of genetic tests.
Geneticists must document the implications of genetic findings for family members and potential screening recommendations.
Used to assess motor neuron function in patients suspected of having familial motor neuron disease.
Results of the EMG must be documented, including findings of denervation or reinnervation.
Neurologists should correlate EMG findings with clinical symptoms for accurate diagnosis.
Familial motor neuron disease is inherited and often linked to specific genetic mutations, while sporadic motor neuron disease occurs without a known family history or genetic predisposition.
